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- Bde45702fc12ecbf349db1a22fa43decb hasDbXref "Orphanet:939" @default.
- Bde45702fc12ecbf349db1a22fa43decb type Axiom @default.
- Bde45702fc12ecbf349db1a22fa43decb annotatedProperty IAO_0000115 @default.
- Bde45702fc12ecbf349db1a22fa43decb annotatedSource MONDO_0009371 @default.
- Bde45702fc12ecbf349db1a22fa43decb annotatedTarget "3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." @default.