Also known as Erythropoietic protoporphyria (disorder), Protoporphyria, EPP, EPP (erythropoietic protoporphyria porphyria), Erythropoietic protoporphyria, PROTOPORPHYRIA, ERYTHROPOIETIC; EPP,
via PubMed
acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).