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erythropoietic protoporphyria

Disease Summary
Associated Targets (9)
Tchem

4

Tbio

4

Tclin

1


Mondo Description 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.
Disease Ontology Description An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Mondo Term and Equivalent IDs
MONDO:0001676:  erythropoietic protoporphyria
MESH:D046351: 
OMIMPS:177000: 
SCTID:51022005: