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- B2d3d7f92ec082da719d78e4cb8476c20 hasDbXref "NCIT:C98678" @default.
- B2d3d7f92ec082da719d78e4cb8476c20 type Axiom @default.
- B2d3d7f92ec082da719d78e4cb8476c20 annotatedProperty IAO_0000115 @default.
- B2d3d7f92ec082da719d78e4cb8476c20 annotatedSource MONDO_0017359 @default.
- B2d3d7f92ec082da719d78e4cb8476c20 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.