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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 (erythropoietic protoporphyria porphyria), Erythropoietic protoporphyria (disorder), Erythropoietic protoporphyria, EPP, Protoporphyria
Xenbase Genes
:
alas2,
fech
| MONDO:0001676 - occipital bone |
| MIM:177000 - PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 |
| 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
Parent(s):
acute porphyria (is_a)