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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 1
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Accession:DOID:0110892 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. (DO)
Synonyms:exact_synonym: IBD1
 primary_id: RDO:9002674
For additional species annotation, visit the Alliance of Genome Resources.

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inflammatory bowel disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:28126021 NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963 		JBrowse link
G Il6 interleukin 6 ISS OMIM:266600 MouseDO NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISS
ISO		 OMIM:266600
ClinVar Annotator: match by term: Inflammatory bowel disease 1		 MouseDO
ClinVar		 PMID:11385576, PMID:11385577, PMID:11425413, PMID:11875755, PMID:11910337, PMID:12019468, PMID:12115249, PMID:12512038, PMID:12557156, PMID:12577202, PMID:12626759, PMID:12630966, PMID:14508222, PMID:14765395, PMID:15024686, PMID:15044951, PMID:15190267, PMID:15198989, PMID:15320482, PMID:15459013, PMID:15571588, PMID:15712650, PMID:15770725, PMID:15967635, PMID:16278823, PMID:16485124, PMID:18056399, PMID:18240302, PMID:18419343, PMID:18489434, PMID:18507017, PMID:18541930, PMID:19467619, PMID:19713276, PMID:20032092, PMID:20230816, PMID:20959815, PMID:21274544, PMID:21335489, PMID:21548950, PMID:21830272, PMID:21914217, PMID:21983784, PMID:22319155, PMID:22684479, PMID:22926499, PMID:22942351, PMID:23102769, PMID:24033266, PMID:24391456, PMID:24583628, PMID:24803813, PMID:24960071, PMID:25741868, PMID:26070941, PMID:26164256, PMID:26316104, PMID:26500656, PMID:27306066, PMID:28492532, PMID:28814775 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        intestinal disease 1495
          inflammatory bowel disease 335
            inflammatory bowel disease 1 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Immune & Inflammatory Diseases 3508
        Inflammation 2161
          gastroenteritis 408
            inflammatory bowel disease 335
              inflammatory bowel disease 1 4
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.