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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:inflammatory bowel disease 14
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Accession:DOID:0110895 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: IBD14
 primary_id: MESH:C567383
 alt_id: OMIM:612245
For additional species annotation, visit the Alliance of Genome Resources.



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inflammatory bowel disease 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf5 interferon regulatory factor 5 ISO OMIM NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      gastrointestinal system disease 6067
        intestinal disease 2453
          inflammatory bowel disease 398
            inflammatory bowel disease 14 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Immune & Inflammatory Diseases 4014
        Inflammation 2339
          gastroenteritis 479
            inflammatory bowel disease 398
              inflammatory bowel disease 14 1
paths to the root