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- Bd476f73c58ee6de547858049d0b1fe74 NCIT_P378 "NCI" @default.
- Bd476f73c58ee6de547858049d0b1fe74 type Axiom @default.
- Bd476f73c58ee6de547858049d0b1fe74 annotatedProperty IAO_0000115 @default.
- Bd476f73c58ee6de547858049d0b1fe74 annotatedSource NCIT_C84937 @default.
- Bd476f73c58ee6de547858049d0b1fe74 annotatedTarget "An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures." @default.