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- Bd1720f09f3bd17ac6cd3374b4a8faf7e hasDbXref "Orphanet:79314" @default.
- Bd1720f09f3bd17ac6cd3374b4a8faf7e type Axiom @default.
- Bd1720f09f3bd17ac6cd3374b4a8faf7e annotatedProperty IAO_0000115 @default.
- Bd1720f09f3bd17ac6cd3374b4a8faf7e annotatedSource MONDO_0009370 @default.
- Bd1720f09f3bd17ac6cd3374b4a8faf7e annotatedTarget "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." @default.