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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 member 5 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 5 ClinVar PMID:15107849, PMID:16333318, PMID:17213842 NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      gastrointestinal system disease 4061
        intestinal disease 1375
          inflammatory bowel disease 290
            inflammatory bowel disease 5 1
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      Immune & Inflammatory Diseases 2911
        Inflammation 1798
          gastroenteritis 364
            inflammatory bowel disease 290
              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.