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- B63e196a1a52d119ed11196377fa9384f hasDbXref "Orphanet:289" @default.
- B63e196a1a52d119ed11196377fa9384f type Axiom @default.
- B63e196a1a52d119ed11196377fa9384f annotatedProperty IAO_0000115 @default.
- B63e196a1a52d119ed11196377fa9384f annotatedSource MONDO_0009162 @default.
- B63e196a1a52d119ed11196377fa9384f annotatedTarget "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." @default.