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Echinobase
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 (disorder), Protoporphyria,

Echinobase Genes : fech


OMIM:
MIM:177000 - protoporphyria, erythropoietic; epp
MIM:300752 - protoporphyria, erythropoietic, x-linked; xlepp

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): acute porphyria (is_a)