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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.


show annotations for term's descendants           Sort by:
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 ISO RGD PMID:20096320 RGD:5130948 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO RGD PMID:20096320 RGD:5130948 NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		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 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Cbs cystathionine beta-synthase severity IMP RGD PMID:27472293 RGD:40903054 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212 		JBrowse link
G Cldn1 claudin 1 ISO protein:decreased expression:intestine: RGD PMID:25277410 RGD:11344877 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:distal colon (rat) RGD PMID:20096320 RGD:5130948 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		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 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Efnb2 ephrin B2 ISO associated with trichuriasis;protein:increased expression:colonic muscularis: RGD PMID:31601124 RGD:127229906 NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242 		JBrowse link
G Ephb2 Eph receptor B2 ameliorates ISO associated with trichuriasis;protein:increased expression:colonic muscularis: RGD PMID:31601124 PMID:31601124 RGD:127229906, RGD:127229906 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299 		JBrowse link
G Htr3a 5-hydroxytryptamine (serotonin) receptor 3A severity ISO DNA:SNP:promoter:c.-42C>T(human) RGD PMID:21420406 RGD:6480659 NCBI chr 9:48,810,513...48,822,451
Ensembl chr 9:48,810,513...48,822,399 		JBrowse link
G Htr7 5-hydroxytryptamine (serotonin) receptor 7 ISO protein:increased expression:brain, intestine RGD PMID:18167178 RGD:6480673 NCBI chr19:35,935,815...36,035,533
Ensembl chr19:35,936,134...36,034,907 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma treatment ISO RGD PMID:22428658 RGD:12791275 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12404228 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il33 interleukin 33 severity ISO RGD PMID:23172891 RGD:40400694 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:colon RGD PMID:23826144 RGD:41404691 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mlxipl MLX interacting protein-like IAGP MouseDO NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO RGD PMID:23691109 RGD:7771566 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pdia3 protein disulfide isomerase associated 3 severity ISO protein:increased expression:colonic mucosa: RGD PMID:20367971 PMID:26221224 RGD:9999158, RGD:13838729 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168 		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 chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Rpsa ribosomal protein SA ISO RGD PMID:20461717 RGD:5686874 NCBI chr 9:119,956,832...119,961,435
Ensembl chr 9:119,956,755...119,961,435 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr17:25,562,219...25,564,536
Ensembl chr17:25,562,212...25,564,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      gastrointestinal system disease 6748
        intestinal disease 3036
          colonic disease 2300
            functional colonic disease 19
              colonic pseudo-obstruction 0
              irritable bowel syndrome 19
              neurogenic bowel 0
paths to the root