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
Accession: DOID:3877
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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Crhr1
corticotropin releasing hormone receptor 1
IEP
RGD
PMID:20096320
RGD:5130948
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crhr2
corticotropin releasing hormone receptor 2
IEP
RGD
PMID:20096320
RGD:5130948
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Bdnf
brain-derived neurotrophic factor
ISO
protein:increased expression:colonic mucosa,intestinal intestine:
RGD
PMID:21997550
RGD:8655978
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cbs
cystathionine beta synthase
severity
ISO
RGD
PMID:27472293
RGD:40903054
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Cldn1
claudin 1
ISO
protein:decreased expression:intestine:
RGD
PMID:25277410
RGD:11344877
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Crhr1
corticotropin releasing hormone receptor 1
IEP
protein:increased expression:distal colon (rat)
RGD
PMID:20096320
RGD:5130948
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crhr2
corticotropin releasing hormone receptor 2
IEP
associated with Anxiety Disorders; protein:decreased expression:distal colon (rat)
RGD
PMID:20096320
RGD:5130948
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Efnb2
ephrin B2
IEP
associated with trichuriasis;protein:increased expression:colonic muscularis:
RGD
PMID:31601124
RGD:127229906
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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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 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
IEP
RGD
PMID:22500715
RGD:405650607
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Gdnf
glial cell derived neurotrophic factor
treatment
IEP
RGD
PMID:31188015
RGD:405878055
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Htr3a
5-hydroxytryptamine receptor 3A
severity
ISO
DNA:SNP:promoter:c.-42C>T(human)
RGD
PMID:21420406
RGD:6480659
NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
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Htr7
5-hydroxytryptamine receptor 7
IEP
protein:increased expression:brain, intestine
RGD
PMID:18167178
RGD:6480673
NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
treatment
IDA
RGD
PMID:22428658
RGD:12791275
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12404228
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il33
interleukin 33
severity
ISO
RGD
PMID:23172891
RGD:40400694
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mir21
microRNA 21
ISO
RNA:increased expression:colon
RGD
PMID:23826144
RGD:41404691
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mlxipl
MLX interacting protein-like
ISS
MouseDO
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Nos3
nitric oxide synthase 3
IDA
RGD
PMID:23691109
RGD:7771566
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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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 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Rnf43
ring finger protein 43
exacerbates
ISO
associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human)
RGD
PMID:29416670
RGD:151361225
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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Rpsa
ribosomal protein SA
IEP
RGD
PMID:20461717
RGD:5686874
NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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Tpsab1
tryptase alpha/beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749843
NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
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