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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:functional colonic disease
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Accession:DOID:3877 term browser browse the term
Definition:Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME falls into this category.
Synonyms:exact_synonym: functional colonic diseases
 primary_id: MESH:D003109;   RDO:0005237
For additional species annotation, visit the Alliance of Genome Resources.


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functional colonic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crhr1 corticotropin releasing hormone receptor 1 IEP RGD PMID:20096320 RGD:5130948 NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IEP RGD PMID:20096320 RGD:5130948 NCBI chr 4:85,553,163...85,596,203
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
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 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cbs cystathionine beta synthase severity ISO RGD PMID:27472293 RGD:40903054 NCBI chr20:9,709,394...9,733,925
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cldn1 claudin 1 ISO protein:decreased expression:intestine: RGD PMID:25277410 RGD:11344877 NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP protein:increased expression:distal colon (rat) RGD PMID:20096320 RGD:5130948 NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,040,203...89,083,481 		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 4:85,553,163...85,596,203
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Efnb2 ephrin B2 IEP associated with trichuriasis;protein:increased expression:colonic muscularis: RGD PMID:31601124 RGD:127229906 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391 		JBrowse link
G Ephb2 Eph receptor B2 ameliorates IEP
IMP		 associated with trichuriasis;protein:increased expression:colonic muscularis: RGD PMID:31601124 PMID:31601124 RGD:127229906, RGD:127229906 NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:22500715 RGD:405650607 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment IEP RGD PMID:31188015 RGD:405878055 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Htr3a 5-hydroxytryptamine receptor 3A severity ISO DNA:SNP:promoter:c.-42C>T(human) RGD PMID:21420406 RGD:6480659 NCBI chr 8:58,138,514...58,150,960
Ensembl chr 8:49,242,020...49,254,389 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IEP protein:increased expression:brain, intestine RGD PMID:18167178 RGD:6480673 NCBI chr 1:243,049,064...243,173,636
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:22428658 RGD:12791275 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12404228 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il33 interleukin 33 severity ISO RGD PMID:23172891 RGD:40400694 NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:colon RGD PMID:23826144 RGD:41404691 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mlxipl MLX interacting protein-like ISS MouseDO NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Nos3 nitric oxide synthase 3 IDA RGD PMID:23691109 RGD:7771566 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		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 3:128,841,781...128,865,733
Ensembl chr 3:108,388,245...108,413,236 		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 chr10:72,958,744...73,034,540
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
G Rpsa ribosomal protein SA IEP RGD PMID:20461717 RGD:5686874 NCBI chr 8:128,728,761...128,732,736
Ensembl chr 8:119,851,225...119,855,247 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr10:14,864,887...14,867,302
Ensembl chr10:14,360,396...14,362,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      gastrointestinal system disease 7196
        intestinal disease 3105
          colonic disease 2323
            functional colonic disease 22
              colonic pseudo-obstruction 0
              irritable bowel syndrome 22
              neurogenic bowel 0
paths to the root