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DOID:13268 - porphyria
Disease Ontology Definition:An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Synonyms: Hematoporphyria, Porphyrinopathy, disorder of porphyrin and hem metabolism, disorder of porphyrin metabolism,
Xenbase Genes : gata1, alas2, hmbs.2, urod, cpox, fech, alad, uros, ppox, hmbs
MONDO:0019142 - inherited porphyria |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
inherited metabolic disorder (is_a)