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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 12
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Accession:DOID:0110887 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. (DO)
Synonyms:exact_synonym: IBD12
 primary_id: MESH:C567388
 alt_id: OMIM:612241;   RDO:0015473
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISS OMIM:612241 MouseDO NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        intestinal disease 1495
          inflammatory bowel disease 335
            inflammatory bowel disease 12 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Immune & Inflammatory Diseases 3508
        Inflammation 2161
          gastroenteritis 408
            inflammatory bowel disease 335
              inflammatory bowel disease 12 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.