erythropoietic protoporphyria
A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.
MONDO:0002520
hepatic porphyria
is_a
MONDO:0019142
inherited porphyria
is_a
EPP (erythropoietic protoporphyria porphyria)
exact
SPCC320.09 SPAC2F3.09