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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


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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 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            inflammatory bowel disease 12 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Immune & Inflammatory Diseases 6729
        Inflammation 3029
          gastroenteritis 562
            inflammatory bowel disease 475
              inflammatory bowel disease 12 1
paths to the root