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Ellis-Van Creveld syndrome
Summary
- Synonym
-
- Chondroectodermal dysplasia
- mesoectodermal dysplasia
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:12714
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
