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 HOXD10 on chromosome 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/15368082
References:
  • GARD:5488
  • MEDDRA:10066242
  • MESH:D005413
  • OMIM:192950
  • ORDO:178382
  • SNOMEDCT_US_2021_09_01:205359003
  • UMLS_CUI:C0240912
Ontology: Human Disease   (DOID:0111568)
OTHER congenital vertical talus PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HOXD10 Charcot-Marie-Tooth disease, foot deformity of 192950
Vertical talus, congenital 192950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None