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| Term | NARP syndrome | ID (Ontology) | DOID:0111273 (Human Disease) |
| Definition | A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. | ||
| Also Known As | "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" ; "neuropathy, ataxia and retinitis pigmentosa" ; "Neuropathy-ataxia-retinitis pigmentosa syndrome" | ||
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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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inherited metabolic disorder |__mitochondrial metabolism disease |__NARP syndrome |
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| Is a | mitochondrial metabolism disease | ||
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External Crossreferences & Linkouts
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GARD:262 MEDDRA:10062940 MESH:C537396 MIM:551500 ORDO:644 SNOMEDCT_US_2023_03_01:237984008 UMLS_CUI:C1328349 |
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