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Disease Ontology Browser
Ellis-Van Creveld syndrome (DOID:12714)
Alliance: disease page
Synonyms: Chondroectodermal dysplasia; mesoectodermal dysplasia
Alt IDs: OMIM:225500, ICD10CM:Q77.6, ICD9CM:756.55, MESH:D004613, NCI:C84684, UMLS_CUI:C0013903
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory