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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital vertical talus
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Accession:DOID:0111568 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CVT;   Charcot-Marie-Tooth Disease, Foot Deformity of;   congenital convex foot;   congenital rocker-bottom foot;   pes valgus, congenital convex;   rocker-bottom foot;   rocker-bottom foot deformity
 primary_id: MESH:C536345;   MESH:C564179
 alt_id: OMIM:192950
 xref: GARD:5488;   ORDO:178382
For additional species annotation, visit the Alliance of Genome Resources.


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congenital vertical talus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd10 homeo box D10 ISO ClinVar Annotator: match by OMIM:192950
ClinVar Annotator: match by term: Vertical talus, congenital
OMIM
ClinVar
PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    physical disorder 3086
      Congenital Foot Deformities 68
        congenital vertical talus 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Congenital Limb Deformities 456
              Lower Extremity Deformities, Congenital 77
                Congenital Foot Deformities 68
                  congenital vertical talus 1
paths to the root