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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 29
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Accession:DOID:0112155 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in heterozygous mutation in INAVA on chromosome 1q32.1. (DO)
Synonyms:exact_synonym: IBD29
 primary_id: OMIM:618077
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inava innate immunity activator ISO ClinVar Annotator: match by term: INFLAMMATORY BOWEL DISEASE 29 OMIM
ClinVar
PMID:21983784 PMID:25741868 PMID:29420262 NCBI chr13:53,088,438...53,108,713
Ensembl chr13:53,088,439...53,108,713
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      gastrointestinal system disease 6053
        intestinal disease 2432
          inflammatory bowel disease 396
            inflammatory bowel disease 29 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                inflammatory bowel disease 29 1
paths to the root