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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:Familial Idiopathic Inflammatory Myopathy
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Accession:DOID:9003997 term browser browse the term
Synonyms:exact_synonym: Idiopathic myopathy
 primary_id: MESH:C000598744
 alt_id: MIM:160750;   RDO:0016019


show annotations for term's descendants           Sort by:
Familial Idiopathic Inflammatory Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility ISO DNA:snp:cds:p.R620W (rs2476601) (human) RGD PMID:18821667 RGD:11535001 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Pathologic Processes 8259
        Inflammation 2834
          myositis 89
            Familial Idiopathic Inflammatory Myopathy 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                muscle tissue disease 1347
                  myopathy 1039
                    myositis 89
                      Familial Idiopathic Inflammatory Myopathy 2
paths to the root