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- Bd208320f18c9090ee5c0cf2c2da33ae0 hasDbXref "Orphanet:79244" @default.
- Bd208320f18c9090ee5c0cf2c2da33ae0 type Axiom @default.
- Bd208320f18c9090ee5c0cf2c2da33ae0 annotatedProperty IAO_0000115 @default.
- Bd208320f18c9090ee5c0cf2c2da33ae0 annotatedSource MONDO_0009502 @default.
- Bd208320f18c9090ee5c0cf2c2da33ae0 annotatedTarget "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." @default.