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| Term | erythropoietic protoporphyria | ID (Ontology) | DOID:13270 (Human Disease) |
| Definition | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. | ||
| Also Known As | "EPP" ; "Protoporphyria" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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porphyria |__acute porphyria |__erythropoietic protoporphyria 2 rec. |
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| Is a | acute porphyria | ||
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GARD:4527 ICD10CM:E80.0 MESH:D046351 MIM:177000 MIM:300752 NCI:C84698 ORDO:79278 SNOMEDCT_US_2023_03_01:51022005 UMLS_CUI:C0162568 |
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