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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 19
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Accession:DOID:0110890 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. (DO)
Synonyms:exact_synonym: IBD19;   inflammatory bowel disease (Crohn disease) 19
 primary_id: MESH:C567372
 alt_id: OMIM:612278


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inflammatory bowel disease 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irgm immunity-related GTPase M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inflammatory bowel disease 19		 OMIM
CTD
ClinVar		 PMID:17554261 PMID:18985712 PMID:19174780 PMID:21278745 PMID:25741868 More... NCBI chr10:33,233,513...33,241,594
Ensembl chr10:33,233,455...33,241,578 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            inflammatory bowel disease 19 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5574
        Inflammation 2768
          gastroenteritis 565
            inflammatory bowel disease 481
              inflammatory bowel disease 19 1
paths to the root