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DOID:13270 - erythropoietic protoporphyria
Disease Ontology Definition:An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Synonyms: EPP, EPP (erythropoietic protoporphyria porphyria), Erythropoietic protoporphyria (disorder), Protoporphyria,
Echinobase Genes : fech
MIM:177000 - protoporphyria, erythropoietic; epp |
MIM:300752 - protoporphyria, erythropoietic, x-linked; xlepp |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
acute porphyria (is_a)