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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:Bone Anteversion
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Accession:DOID:9000114 term browser browse the term
Definition:Malalignment of a bone in which its head and neck is rotated excessively forward or inward.
Synonyms:exact_synonym: Bone Antetorsion;   Bone Antetorsions;   Bone Anteversions
 primary_id: MESH:D060750
 xref: EFO:1001274


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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 chr13:65,037,363...65,054,764
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 chr10:71,228,145...71,258,222
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Anatomical Pathological Conditions 2868
        Torsion Abnormality 76
          Bone Anteversion 3
            Coxa Vara + 3
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        connective tissue disease 5919
          bone disease 4369
            Bone Malalignment 3
              Bone Anteversion 3
                Coxa Vara + 3
paths to the root