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Summary Literature (0)
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, Erythropoietic protoporphyria (disorder), Protoporphyria

Xenbase Genes : alas2, fech

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0001676 - erythropoietic protoporphyria


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)