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- Bf226ad836bca4c15a8a0a96c1aee60f7 hasDbXref "Orphanet:2868" @default.
- Bf226ad836bca4c15a8a0a96c1aee60f7 type Axiom @default.
- Bf226ad836bca4c15a8a0a96c1aee60f7 annotatedProperty IAO_0000115 @default.
- Bf226ad836bca4c15a8a0a96c1aee60f7 annotatedSource MONDO_0007461 @default.
- Bf226ad836bca4c15a8a0a96c1aee60f7 annotatedTarget "Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." @default.