| Term Name: | erythropoietic protoporphyria |
|---|---|
| Synonyms: | EPP, Protoporphyria |
| Definition: | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. |
| Ontology: | Human Disease [DOID:13270] ( DOID:13270 ) |