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- B5d819881ad0acd6a773387f2df3b289c NCIT_P378 "NCI" @default.
- B5d819881ad0acd6a773387f2df3b289c type Axiom @default.
- B5d819881ad0acd6a773387f2df3b289c annotatedProperty IAO_0000115 @default.
- B5d819881ad0acd6a773387f2df3b289c annotatedSource NCIT_C98678 @default.
- B5d819881ad0acd6a773387f2df3b289c annotatedTarget "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." @default.