Term Name: | erythropoietic protoporphyria |
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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 ) |