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- B5bb1e690cdfb1331afe67407d6166cb5 hasDbXref "Orphanet:255138" @default.
- B5bb1e690cdfb1331afe67407d6166cb5 type Axiom @default.
- B5bb1e690cdfb1331afe67407d6166cb5 annotatedProperty IAO_0000115 @default.
- B5bb1e690cdfb1331afe67407d6166cb5 annotatedSource MONDO_0013580 @default.
- B5bb1e690cdfb1331afe67407d6166cb5 annotatedTarget "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." @default.