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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 Abcb1a ATP binding cassette subfamily B member 1A ISO
ISS		 ClinVar Annotator: match by term: Inflammatory bowel disease 13
CTD Direct Evidence: marker/mechanism
OMIM:612244		 OMIM
ClinVar
CTD
MouseDO		 PMID:9820555 PMID:14610718 PMID:16434479 PMID:25741868 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		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 13 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 13 1
paths to the root