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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:Hip Contracture
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Accession:DOID:9001716 term browser browse the term
Definition:Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is sometimes present when the hip is in motion. It may be caused by trauma, infection, or poliomyelitis. (From Current Medical Information & Technology, 5th ed)
Synonyms:exact_synonym: Hip Contractures
 primary_id: MESH:D006616


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Hip Contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hip contracture ClinVar PMID:17561957 PMID:30311386 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      musculoskeletal system disease 8498
        muscular disease 2222
          Contracture 140
            Hip Contracture 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      musculoskeletal system disease 8498
        connective tissue disease 5967
          bone disease 4417
            bone inflammation disease 1557
              arthropathy 1536
                Contracture 140
                  Hip Contracture 1
paths to the root