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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 CARD8 on chromosome 19q13.33. (DO)
Synonyms:exact_synonym: IBD30;   inflammatory bowel disease (Crohn disease) 30
 primary_id: OMIM:619079
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1b NLR family, pyrin domain containing 1B ISO ClinVar Annotator: match by term: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 OMIM
ClinVar
PMID:29408806 NCBI chr10:57,755,957...57,847,867 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      gastrointestinal system disease 6054
        intestinal disease 2433
          inflammatory bowel disease 396
            inflammatory bowel disease 30 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                inflammatory bowel disease 30 1
paths to the root