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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 Colon;   Mucous Colitides;   irritable bowel syndromes;   mucous colitis
 related_synonym: psychogenic IBS
 primary_id: MESH:D043183
 xref: EFO:0000555;   ICD10CM:K58;   ICD10CM:K58.9;   ICD9CM:564.1;   NCI:C82343


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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 chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G CBS cystathionine beta-synthase severity ISO RGD PMID:27472293 RGD:40903054 NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CLDN1 claudin 1 ISO protein:decreased expression:intestine: RGD PMID:25277410 RGD:11344877 NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:distal colon (rat) RGD PMID:20096320 RGD:5130948 NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO associated with Anxiety Disorders; protein:decreased expression:distal colon (rat) RGD PMID:20096320 RGD:5130948 NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220 		JBrowse link
G EFNB2 ephrin B2 ISO associated with trichuriasis;protein:increased expression:colonic muscularis: RGD PMID:31601124 RGD:127229906 NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548 		JBrowse link
G EPHB2 EPH receptor B2 ameliorates ISO associated with trichuriasis;protein:increased expression:colonic muscularis: RGD PMID:31601124 RGD:127229906 NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:22500715 RGD:405650607 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766 		JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:31188015 RGD:405878055 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362 		JBrowse link
G HTR3A 5-hydroxytryptamine receptor 3A severity ISO DNA:SNP:promoter:c.-42C>T(human) RGD PMID:21420406 RGD:6480659 NCBI chr11:108,851,954...108,869,119
Ensembl chr11:112,695,891...112,711,695 		JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO protein:increased expression:brain, intestine RGD PMID:18167178 RGD:6480673 NCBI chr10:87,480,970...87,598,212
Ensembl chr10:91,009,941...91,125,158 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment ISO RGD PMID:22428658 RGD:12791275 NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12404228 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL33 interleukin 33 severity ISO RGD PMID:23172891 RGD:40400694 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G MLXIPL MLX interacting protein like ISO MouseDO Ensembl chr 7:80,745,765...80,776,153 JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:23691109 RGD:7771566 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 severity ISO protein:increased expression:colonic mucosa: RGD PMID:20367971 PMID:26221224 RGD:13838729 RGD:9999158 NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763 		JBrowse link
G RNF43 ring finger protein 43 exacerbates ISO associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human) RGD PMID:29416670 RGD:151361225 NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748 		JBrowse link
G RPSA ribosomal protein SA ISO RGD PMID:20461717 RGD:5686874 NCBI chr 3:39,311,321...39,317,083
Ensembl chr 3:39,591,012...39,596,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15809
    syndrome 10611
      irritable bowel syndrome 19
Path 2
Term Annotations click to browse term
  disease 15809
    disease of anatomical entity 15486
      gastrointestinal system disease 6595
        intestinal disease 2947
          colonic disease 2216
            functional colonic disease 19
              irritable bowel syndrome 19
paths to the root