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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 5
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Accession:DOID:0110889 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. (DO)
Synonyms:exact_synonym: IBD5
 primary_id: MESH:C565234
 alt_id: OMIM:606348
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a5 solute carrier family 22 (organic cation transporter), member 5 ISO ClinVar Annotator: match by null ClinVar PMID:15107849, PMID:16333318, PMID:17213842 NCBI chr11:53,864,542...53,891,796
Ensembl chr11:53,864,542...53,891,660
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13413
    disease of anatomical entity 12886
      gastrointestinal system disease 4370
        intestinal disease 1450
          inflammatory bowel disease 311
            inflammatory bowel disease 5 1
Path 2
Term Annotations click to browse term
  disease 13413
    disease of anatomical entity 12886
      Immune & Inflammatory Diseases 3142
        Inflammation 1947
          gastroenteritis 385
            inflammatory bowel disease 311
              inflammatory bowel disease 5 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.