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- B8adda6cc55712476729db49bd2558d0c NCIT_P378 "NCI" @default.
- B8adda6cc55712476729db49bd2558d0c type Axiom @default.
- B8adda6cc55712476729db49bd2558d0c annotatedProperty IAO_0000115 @default.
- B8adda6cc55712476729db49bd2558d0c annotatedSource NCIT_C159654 @default.
- B8adda6cc55712476729db49bd2558d0c annotatedTarget "An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal." @default.