| Metadata | |
|---|---|
| ID | DOID:0111568 |
| Name | congenital vertical talus |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205359003 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital convex foot [EXACT] congenital convex pes valgus [EXACT] congenital rocker-bottom foot [EXACT] CVT [EXACT] rocker-bottom foot deformity [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a connective tissue disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |