autosomal erythropoietic protoporphyria
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
MONDO:0001676
erythropoietic protoporphyria
is_a
EPP
exact
SPCC320.09