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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:autoimmune disease of eyes, ear, nose and throat
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Accession:DOID:0060030 term browser browse the term
Definition:An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


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sympathetic ophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*0404(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:11222331, PMID:9062965 RGD:7365091, RGD:7365100 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      autoimmune disease of eyes, ear, nose and throat 1
        Mikulicz disease 0
        autoimmune uveitis 0
        sympathetic ophthalmia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            autoimmune disease 1666
              autoimmune disease of the nervous system 415
                autoimmune disease of eyes, ear, nose and throat 1
                  Mikulicz disease 0
                  autoimmune uveitis 0
                  sympathetic ophthalmia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.