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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;   RDO:0015375
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:612567
ClinVar Annotator: match by term: Inflammatory bowel disease 25, autosomal recessive
ClinVar
OMIM
PMID:16757563, PMID:19890111, PMID:21519361, PMID:22549091, PMID:24033266, PMID:25373860, PMID:27336593, PMID:27699073, PMID:28492532, PMID:29248579, PMID:30365510 NCBI chr11:31,560,301...31,582,457
Ensembl chr11:31,560,530...31,582,457
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        intestinal disease 1504
          inflammatory bowel disease 343
            inflammatory bowel disease 25 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                inflammatory bowel disease 25 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.