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- Bd66fdffabbc36d9b3a2df0e43896097e NCIT_P378 "NCI" @default.
- Bd66fdffabbc36d9b3a2df0e43896097e type Axiom @default.
- Bd66fdffabbc36d9b3a2df0e43896097e annotatedProperty IAO_0000115 @default.
- Bd66fdffabbc36d9b3a2df0e43896097e annotatedSource NCIT_C98678 @default.
- Bd66fdffabbc36d9b3a2df0e43896097e 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.