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- B8a6b8d16fd4cf9c2ecae35c23ab85876 hasDbXref "Orphanet:255182" @default.
- B8a6b8d16fd4cf9c2ecae35c23ab85876 type Axiom @default.
- B8a6b8d16fd4cf9c2ecae35c23ab85876 annotatedProperty IAO_0000115 @default.
- B8a6b8d16fd4cf9c2ecae35c23ab85876 annotatedSource MONDO_0009503 @default.
- B8a6b8d16fd4cf9c2ecae35c23ab85876 annotatedTarget "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." @default.