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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:Hemophilic Arthropathy
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Accession:DOID:9004755 term browser browse the term
Definition:Joint degeneration following recurrent bleeding episodes in patients with severe hemophilia.
Synonyms:primary_id: RDO:9000388


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Hemophilic Arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII treatment IMP RGD PMID:27060449 RGD:150520059 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:27060449 RGD:150520059
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      musculoskeletal system disease 8479
        arthropathy 1530
          hemarthrosis 7
            Hemophilic Arthropathy 3
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      musculoskeletal system disease 8479
        connective tissue disease 5951
          bone disease 4402
            bone inflammation disease 1551
              arthropathy 1530
                hemarthrosis 7
                  Hemophilic Arthropathy 3
paths to the root