metabolic skin disease
inborn errors of metabolism
porphyria
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
DIS PORPHYRIN METABOLISM
DOID:13268
Disorder of porphyrin and haem metabolism
Disorder of porphyrin and heme metabolism
Disorder of porphyrin metabolism (disorder)
Disorder of porphyrin metabolism, NOS
Disorders of porphyrin metabolism
Disorders of porphyrin metabolism (disorder)
GeneRIF:16026339
Hematoporphyria
ICD9:277.1
James Malone
MSH:D011164
Porphyria (disorder)
Porphyria NOS
Porphyria NOS (disorder)
Porphyrinopathy
Porphyrinopathy (disorder)
SNOMEDCT:190916001
SNOMEDCT:29094004
SNOMEDCT:371628009
URI: http://www.ebi.ac.uk/cellline#porphyria
disorder of porphyrin and hem metabolism
disorder of porphyrin metabolism
porphyria
porphyrias