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. The disease is erythropoietic protoporphyria (MONDO_0001676, a Monarch Disease Ontology id). Also known as: EPP (erythropoietic protoporphyria porphyria), protoporphyria.