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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
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 | ClinVar Annotator: match by term: Inflammatory bowel disease 17, protection against OMIM
ClinVar		 PMID:12023369 PMID:17068223 PMID:17447842 PMID:17587057 PMID:17786191 More... NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            inflammatory bowel disease 17 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Immune & Inflammatory Diseases 5897
        Inflammation 3084
          gastroenteritis 607
            inflammatory bowel disease 525
              inflammatory bowel disease 17 1
paths to the root