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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 the HOXD10 gene 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


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congenital vertical talus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD10 homeobox D10 IAGP
EXP		 ClinVar Annotator: match by term: Congenital vertical talus
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: Rocker-bottom foot deformity		 ClinVar
OMIM
CTD		 PMID:15146389 PMID:16450407 PMID:25741868 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      Congenital Foot Deformities 219
        congenital vertical talus 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14120
          Musculoskeletal Abnormalities 5236
            Congenital Limb Deformities 1411
              Lower Extremity Deformities, Congenital 228
                Congenital Foot Deformities 219
                  congenital vertical talus 1
paths to the root