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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 25
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Accession:DOID:0110909 term browser browse the term
Definition:An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: IBD25;   autosomal recessive inflammatory bowel disease 25;   early onset autosomal recessive inflammatory bowel disease 25
 primary_id: MESH:C567251
 alt_id: OMIM:612567


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inflammatory bowel disease 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10rb interleukin 10 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inflammatory bowel disease 25		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16757563 PMID:17576681 PMID:19890111 More... NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive ClinVar PMID:25741868 PMID:26011067 PMID:28492532 NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      gastrointestinal system disease 7050
        intestinal disease 3073
          inflammatory bowel disease 480
            inflammatory bowel disease 25 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                inflammatory bowel disease 25 2
paths to the root