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- B57cdd750195ae733e85b7aa7b923cfc2 NCIT_P378 "NCI" @default.
- B57cdd750195ae733e85b7aa7b923cfc2 type Axiom @default.
- B57cdd750195ae733e85b7aa7b923cfc2 annotatedProperty IAO_0000115 @default.
- B57cdd750195ae733e85b7aa7b923cfc2 annotatedSource NCIT_C103968 @default.
- B57cdd750195ae733e85b7aa7b923cfc2 annotatedTarget "A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia." @default.