Disease association ontology term - MONDO:0001676 - erythropoietic protoporphyria
Term summary
- ID
- MONDO:0001676
- Name
- erythropoietic protoporphyria
- Ontology or CV name
- Disease association
- 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.
