loading...| Preferred Name | congenital vertical talus | |
| Synonyms |
CVT congenital convex foot congenital convex pes valgus rocker-bottom foot deformity congenital rocker-bottom foot |
|
| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111568 |
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| database_cross_reference |
ORDO:178382 UMLS_CUI:C0240912 SNOMEDCT_US_2023_03_01:205359003 MESH:D005413 MEDDRA:10066242 GARD:5488 MIM:192950 |
|
| 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. |
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| disease has basis in | ||
| has exact synonym |
CVT congenital convex foot congenital convex pes valgus rocker-bottom foot deformity congenital rocker-bottom foot |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111568 |
|
| in_subset | ||
| label |
congenital vertical talus |
|
| notation |
DOID:0111568 |
|
| prefLabel |
congenital vertical talus |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_65 |