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RGD uses the Human Disease Ontology (DO, 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: EFO:1001982;   GARD:735;   ORDO:81

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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 PMID:18550579 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 21121
    syndrome 10792
      antisynthetase syndrome 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        peripheral nervous system disease 4092
          neuropathy 3877
            neuromuscular disease 3040
              muscular disease 2129
                muscle tissue disease 1279
                  myopathy 994
                    myositis 86
                      antisynthetase syndrome 1
paths to the root