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