Ellis-Van Creveld syndrome

Summary

DOID:12714 - Ellis-Van Creveld syndrome

Disease 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 the EVC or EVC2 gene on chromosome 4p16.2.

Synonyms: Chondroectodermal dysplasia, Chondroectodermal dysplasia (disorder), Ellis-van Creveld syndrome, mesoectodermal dysplasia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gli1, evc2, dync2li1, evc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009162 - Ellis-van Creveld syndrome

MONDO:0009162 - Ellis-van Creveld syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)