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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 30
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Accession:DOID:0112154 term browser browse the term
Definition:An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. (DO)
Synonyms:exact_synonym: CARD8-RELATED CONDITION;   IBD30;   inflammatory bowel disease (Crohn disease) 30
 primary_id: OMIM:619079


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        intestinal disease 3077
          inflammatory bowel disease 481
            inflammatory bowel disease 30 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                inflammatory bowel disease 30 0
paths to the root