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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:antisynthetase syndrome
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Accession:DOID:0080744 term browser browse the term
Definition:An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. (DO)
Synonyms:primary_id: MESH:C537778
 xref: GARD:735;   ORDO:81
For additional species annotation, visit the Alliance of Genome Resources.



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antisynthetase syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      antisynthetase syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            neuromuscular disease 2186
              muscular disease 1418
                muscle tissue disease 935
                  myopathy 769
                    myositis 80
                      antisynthetase syndrome 1
paths to the root