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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


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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            inflammatory bowel disease 5 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Immune & Inflammatory Diseases 5008
        Inflammation 2430
          gastroenteritis 524
            inflammatory bowel disease 438
              inflammatory bowel disease 5 1
paths to the root