OBO ID: DOID:12714 |
Term Name: | Ellis-Van Creveld syndrome | Search Ontology: | |
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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 the EVC or EVC2 gene on chromosome 4p16.2. (2) | ||
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Ontology: | Human Disease ( DOID:12714 ) |
OTHER Ellis-Van Creveld syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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