Weyers acrofacial dysostosis

Summary

DOID:0111571 - Weyers acrofacial dysostosis

Disease Ontology Definition:An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.

Synonyms: acrofacial dysostosis, Weyers type, Curry-Hall syndrome, WAD, Weyers acrodental dysostosis

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

: evc2, evc

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

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

Parent(s): acrofacial dysostosis (is_a), autosomal dominant disease (is_a)