erythropoietic protoporphyria
MONDO:0001676Mondo
Findings
No curated finding names erythropoietic protoporphyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0001676), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: erythropoietic protoporphyria
- Also called
- EPP (erythropoietic protoporphyria porphyria)