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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 17
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Accession:DOID:0110883 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. (DO)
Synonyms:exact_synonym: IBD17
 related_synonym: INFLAMMATORY BOWEL DISEASE 17, PROTECTION AGAINST
 primary_id: MESH:C567378
 alt_id: OMIM:612261;   RDO:0015465
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23r interleukin 23 receptor ISO ClinVar Annotator: match by term: Inflammatory bowel disease 17, protection against OMIM
ClinVar
PMID:12023369, PMID:17068223, PMID:17447842, PMID:17587057, PMID:17786191, PMID:17804789, PMID:18438406, PMID:19122664, PMID:20228799 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        intestinal disease 1496
          inflammatory bowel disease 337
            inflammatory bowel disease 17 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        Inflammation 2163
          gastroenteritis 410
            inflammatory bowel disease 337
              inflammatory bowel disease 17 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.