ZFIN Human Disease: congenital vertical talus

OBO ID: DOID:0111568

Term Name:	congenital vertical talus		Search Ontology:
Synonyms:	congenital convex foot congenital convex pes valgus congenital rocker-bottom foot CVT rocker-bottom foot deformity
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 the HOXD10 gene on chromosome 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/15368082
References:	GARD:5488 MEDDRA:10066242 MESH:D005413 MIM:192950 ORDO:178382 SNOMEDCT_US_2023_03_01:205359003 UMLS_CUI:C0240912
Ontology:	Human Disease ( DOID:0111568 )

Relationships

is a type of:	autosomal dominant disease connective tissue disease physical disorder autosomal dominant disease connective tissue disease physical disorder Show first 5 Terms

OTHER congenital vertical talus PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HOXD10	hoxd10a	Charcot-Marie-Tooth disease, foot deformity of	192950
		Vertical talus, congenital	192950

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None