|
| General Information | |||
|---|---|---|---|
| Term | congenital vertical talus | ID (Ontology) | DOID:0111568 (Human Disease) |
| 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. | ||
| Also Known As | "congenital convex foot" ; "congenital convex pes valgus" ; "congenital rocker-bottom foot" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
autosomal genetic disease |__autosomal dominant disease__ musculoskeletal system disease | |__connective tissue disease___| disease | |__physical disorder___________| congenital vertical talus 1 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease physical disorder connective tissue disease |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:5488 MEDDRA:10066242 MESH:D005413 MIM:192950 ORDO:178382 SNOMEDCT_US_2023_03_01:205359003 UMLS_CUI:C0240912 |
|||