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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 28
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Accession:DOID:0110899 term browser browse the term
Definition:An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: IBD28;   autosomal recessive inflammatory bowel disease 28;   early onset autosomal recessive inflammatory bowel disease 28
 primary_id: MESH:C567728
 alt_id: OMIM:613148
 xref: NCI:C164676
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28, autosomal recessive
ClinVar Annotator: match by OMIM:613148
OMIM
ClinVar
PMID:19890111, PMID:21519361, PMID:22476154, PMID:22549091, PMID:23158016, PMID:24033266, PMID:24813381, PMID:25741868, PMID:26193622, PMID:26822028, PMID:27699570, PMID:28267044, PMID:28492532, PMID:28930861, PMID:29140941, PMID:29248579 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Smim35 small integral membrane protein 35 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 28, autosomal recessive ClinVar NCBI chr 8:49,491,533...49,556,062
Ensembl chr 8:49,544,858...49,547,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        intestinal disease 1503
          inflammatory bowel disease 342
            inflammatory bowel disease 28 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                inflammatory bowel disease 28 2
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.