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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:irritable bowel syndrome
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Accession:DOID:9778 term browser browse the term
Definition:An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. (DO)
Synonyms:exact_synonym: IBD;   Irritable Bowel Syndromes;   Irritable Colon;   Mucous Colitides;   Mucous Colitis
 related_synonym: psychogenic IBS
 primary_id: MESH:D043183
 xref: ICD10CM:K58;   ICD10CM:K58.9;   ICD9CM:564.1;   NCI:C82343
For additional species annotation, visit the Alliance of Genome Resources.

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irritable bowel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:colonic mucosa,intestinal intestine: RGD PMID:21997550 RGD:8655978 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Cbs cystathionine beta synthase severity ISO RGD PMID:27472293 RGD:40903054 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751 		JBrowse link
G Cldn1 claudin 1 ISO protein:decreased expression:intestine: RGD PMID:25277410 RGD:11344877 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP protein:increased expression:distal colon (rat) RGD PMID:20096320 RGD:5130948 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IEP associated with Anxiety Disorders; protein:decreased expression:distal colon (rat) RGD PMID:20096320 RGD:5130948 NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362 		JBrowse link
G Htr3a 5-hydroxytryptamine receptor 3A severity ISO DNA:SNP:promoter:c.-42C>T(human) RGD PMID:21420406 RGD:6480659 NCBI chr 8:53,211,436...53,223,878
Ensembl chr 8:53,211,438...53,223,804 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IEP protein:increased expression:brain, intestine RGD PMID:18167178 RGD:6480673 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:22428658 RGD:12791275 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12404228 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il33 interleukin 33 severity ISO RGD PMID:23172891 RGD:40400694 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029 		JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:colon RGD PMID:23826144 RGD:41404691 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301 		JBrowse link
G Mlxipl MLX interacting protein-like ISS MouseDO NCBI chr12:24,590,645...24,619,639 JBrowse link
G Nos3 nitric oxide synthase 3 IDA RGD PMID:23691109 RGD:7771566 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 severity IEP
IMP		 protein:increased expression:colonic mucosa: RGD PMID:20367971, PMID:26221224 RGD:9999158, RGD:13838729 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707 		JBrowse link
G Rpsa ribosomal protein SA IEP RGD PMID:20461717 RGD:5686874 NCBI chr 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr10:14,701,253...14,703,668
Ensembl chr10:14,701,253...14,703,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      irritable bowel syndrome 17
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      gastrointestinal system disease 4690
        Gastrointestinal Diseases 2622
          intestinal disease 1576
            colonic disease 1068
              functional colonic disease 17
                irritable bowel syndrome 17
paths to the root