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- Bdaf7c7014ada29f37e1a1f3ae8b75104 hasDbXref "Orphanet:99646" @default.
- Bdaf7c7014ada29f37e1a1f3ae8b75104 type Axiom @default.
- Bdaf7c7014ada29f37e1a1f3ae8b75104 annotatedProperty IAO_0000115 @default.
- Bdaf7c7014ada29f37e1a1f3ae8b75104 annotatedSource MONDO_0013941 @default.
- Bdaf7c7014ada29f37e1a1f3ae8b75104 annotatedTarget "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." @default.