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- Bd45673d47ef1bd2e108a8b5cfb1e086c hasDbXref "Orphanet:79243" @default.
- Bd45673d47ef1bd2e108a8b5cfb1e086c type Axiom @default.
- Bd45673d47ef1bd2e108a8b5cfb1e086c annotatedProperty IAO_0000115 @default.
- Bd45673d47ef1bd2e108a8b5cfb1e086c annotatedSource MONDO_0010717 @default.
- Bd45673d47ef1bd2e108a8b5cfb1e086c annotatedTarget "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." @default.