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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 13
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Accession:DOID:0110893 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. (DO)
Synonyms:exact_synonym: IBD13
 primary_id: MESH:C567384
 alt_id: OMIM:612244

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inflammatory bowel disease 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 13 OMIM
ClinVar		 PMID:9820555 PMID:14610718 PMID:16434479 PMID:25741868 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            inflammatory bowel disease 13 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Immune & Inflammatory Diseases 4636
        Inflammation 2225
          gastroenteritis 486
            inflammatory bowel disease 409
              inflammatory bowel disease 13 1
paths to the root