|OBO ID: DOID:12714|
|Term Name:||Ellis-Van Creveld syndrome||Search Ontology:|
|Definition:||A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2. (2)|
|Ontology:||Human Disease (DOID:12714)|
|is a type of:||
OTHER Ellis-Van Creveld syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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