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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:Coxa Vara
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Accession:DOID:9005226 term browser browse the term
Definition:Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.
Synonyms:exact_synonym: Acquired Coxa Vara;   Acquired Coxa Varas;   Acquired Coxa Varus;   Congenital Coxa Vara;   Congenital Coxa Varas;   Congenital Coxa Varus;   Coxa Varas;   Coxa Varus;   Developmental Coxa Vara;   Developmental Coxa Varas;   Developmental Coxa Varus;   Infantile Coxa Vara;   Infantile Coxa Varas
 primary_id: MESH:D060905
 alt_id: MIM:122750
 xref: EFO:1001298


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camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition		 OMIM
CTD
ClinVar		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:31680123 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr13:64,974,419...65,037,604
Ensembl chr13:62,424,312...62,487,496 		JBrowse link
ischiocoxopodopatellar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx4 T-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital coxa vara, patella aplasia and tarsal synostosis | ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition		 OMIM
CTD
ClinVar		 PMID:11303519 PMID:15106123 PMID:16199547 PMID:23592887 PMID:24033266 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Anatomical Pathological Conditions 2866
        Torsion Abnormality 76
          Bone Anteversion 3
            Coxa Vara 3
              camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
              ischiocoxopodopatellar syndrome 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8460
        connective tissue disease 5914
          bone disease 4363
            Bone Malalignment 3
              Bone Anteversion 3
                Coxa Vara 3
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
                  ischiocoxopodopatellar syndrome 1
paths to the root