Erythropoietic protoporphyria [DOID:13270]
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Synonyms: erythropoietic protoporphyria, DOID:13270, erythropoietic protoporphyrias, EPP, Protoporphyria ...
Linkouts: OMIM #1 #2