congenital vertical talus

Summary

DOID:0111568 - congenital vertical talus

Disease Ontology Definition:A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in HOXD10 on chromosome 2q31.1.

Synonyms: CVT, congenital convex foot, congenital convex pes valgus, congenital rocker-bottom foot, rocker-bottom foot deformity

In OMIM:

OMIM:192950 - VERTICAL TALUS, CONGENITAL; CVT

OMIM:192950 - VERTICAL TALUS, CONGENITAL; CVT

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

: hoxd10

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

Parent(s): autosomal dominant disease (is_a), connective tissue disease (is_a)