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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:diarrhea
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Accession:DOID:13250 term browser browse the term
Definition:An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.
Synonyms:exact_synonym: diarrheas;   diarrhoea
 related_synonym: diarrhea of presumed infectious origin
 primary_id: MESH:D003967
 alt_id: RDO:0000124
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
diarrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21596674 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Gucy2c guanylate cyclase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22436048 NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Diarrhoea ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9278552 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:20844880 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Lct lactase IDA RGD PMID:15977434 RGD:1600253 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
JBrowse link
G Mme membrane metallo-endopeptidase treatment IMP RGD PMID:3481337 RGD:13801042 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Myo5b myosin Vb ISO CTD Direct Evidence: marker/mechanism CTD PMID:18724368 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:8421497, PMID:10094567, PMID:11310796, PMID:11464238, PMID:12469324, PMID:15712365, PMID:15889046, PMID:21085994, PMID:21292473, PMID:23010199, PMID:23504663, PMID:25093188, PMID:25741868, PMID:26818737 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: therapeutic CTD PMID:19925840 NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 NCBI chr 8:70,915,944...70,931,275
Ensembl chr 8:70,915,953...70,930,179
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO DNA:frameshift mutation, missense mutations
ClinVar Annotator: match by term: Diarrhoea
ClinVar PMID:9718329, PMID:18216024, PMID:21332001, PMID:30311386, PMID:8896562 RGD:1600011 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564064 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 NCBI chr 1:142,118,910...142,135,219
Ensembl chr 1:142,118,917...142,133,627
JBrowse link
Bile Acid Malabsorption, Primary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary OMIM
ClinVar
PMID:19823678, PMID:25741868, PMID:28492532 NCBI chr16:90,324,420...90,350,254
Ensembl chr16:90,324,361...90,345,865
JBrowse link
congenital diarrhea 5 with tufting enteropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Diarrhea 5, with tufting enteropathy, congenital
ClinVar Annotator: match by OMIM:613217
OMIM
ClinVar
PMID:18572020, PMID:19820410, PMID:20034091, PMID:20981223, PMID:21315192, PMID:23462293, PMID:24142340, PMID:25637381, PMID:25741868, PMID:28492532, PMID:28701297 NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
JBrowse link
congenital diarrhea 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Diarrhea 6 ClinVar
OMIM
PMID:22436048, PMID:25741868 NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Diarrhea 6 ClinVar PMID:22436048, PMID:25741868 NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
JBrowse link
congenital diarrhea 7 with exudative enteropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar
PMID:23114594, PMID:25326635, PMID:25741868, PMID:26883093 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
congenital malabsorptive diarrhea 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurog3 neurogenin 3 ISO ClinVar Annotator: match by term: Diarrhea 4, malabsorptive, congenital
ClinVar Annotator: match by OMIM:610370
OMIM
ClinVar
PMID:16855267, PMID:25741868 NCBI chr20:31,761,419...31,762,893
Ensembl chr20:31,761,405...31,762,893
JBrowse link
congenital secretory chloride diarrhea 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Darrow-Gamble disease
ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
ClinVar Annotator: match by OMIM:214700
OMIM
ClinVar
PMID:8896562, PMID:9554749, PMID:9718329, PMID:10671059, PMID:10881594, PMID:11302976, PMID:11524734, PMID:12442266, PMID:18216024, PMID:18728535, PMID:18847625, PMID:19861545, PMID:21127979, PMID:21150650, PMID:21332001, PMID:21394828, PMID:21853658, PMID:22779076, PMID:23756661, PMID:24033266, PMID:24350656, PMID:25568271, PMID:25741868, PMID:27525615, PMID:28422190, PMID:28492532, PMID:28644346, PMID:29086717, PMID:30311386 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
congenital secretory sodium diarrhea 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO ClinVar Annotator: match by term: Diarrhea 3, secretory sodium, congenital, syndromic OMIM
ClinVar
PMID:11113072, PMID:17786112, PMID:19185281, PMID:20009592, PMID:23689399, PMID:24142340, PMID:30445423 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
congenital secretory sodium diarrhea 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Diarrhea 8, secretory sodium, congenital ClinVar
OMIM
PMID:3880821, PMID:25741868, PMID:26358773 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
JBrowse link
DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plvap plasmalemma vesicle associated protein ISO ClinVar Annotator: match by term: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ClinVar
OMIM
PMID:26207260, PMID:29661969, PMID:29875123 NCBI chr16:19,906,354...19,918,668
Ensembl chr16:19,906,318...19,918,689
JBrowse link
Diarrhea 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Percc1 proline and glutamate rich with coiled coil 1 ISO ClinVar Annotator: match by term: DIARRHEA 11, MALABSORPTIVE, CONGENITAL OMIM
ClinVar
PMID:31217582 NCBI chr10:14,529,231...14,531,682 JBrowse link
Diarrhea 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: DIARRHEA 9 ClinVar
OMIM
PMID:29909964 NCBI chr 2:207,433,771...207,457,094
Ensembl chr 2:207,440,886...207,455,258
JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:19471859, PMID:28492532, PMID:30443250 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Foxp3 forkhead box P3 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
ClinVar Annotator: match by OMIM:304790
ClinVar
CTD
OMIM
PMID:10706361, PMID:11120765, PMID:11137992, PMID:11137993, PMID:11295725, PMID:12161590, PMID:14671208, PMID:15096376, PMID:16741580, PMID:16920951, PMID:17635943, PMID:18414213, PMID:18931102, PMID:18951619, PMID:19471859, PMID:20650610, PMID:21036387, PMID:24033266, PMID:24250806, PMID:24258212, PMID:24982679, PMID:25326164, PMID:25741868, PMID:25911531, PMID:26661331, PMID:27783946, PMID:28492532, PMID:28778586, PMID:28783662, PMID:29896738, PMID:30443250, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISS OMIM:251850 MouseDO NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Congenital microvillous atrophy
ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy
ClinVar Annotator: match by OMIM:251850
OMIM
ClinVar
PMID:18724368, PMID:19006234, PMID:20186687, PMID:21206382, PMID:24014347, PMID:24033266, PMID:25111220, PMID:25741868, PMID:27242896, PMID:28492532, PMID:29266534 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link
Trehalase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Treh trehalase ISO ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency OMIM
ClinVar
PMID:28406212 NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr20:4,530,328...4,536,085
Ensembl chr20:4,530,342...4,536,209
JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
PMID:24033266 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:24088041, PMID:25326635, PMID:25741868, PMID:26633545 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Ttc37 tetratricopeptide repeat domain 37 ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar Annotator: match by OMIM:222470
OMIM
ClinVar
PMID:20176027, PMID:21120949, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 2:2,891,265...3,037,602
Ensembl chr 2:2,903,492...3,004,553
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skiv2l Ski2 like RNA helicase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
ClinVar Annotator: match by OMIM:614602
OMIM
ClinVar
PMID:22444670, PMID:24033266, PMID:25326635, PMID:25741868, PMID:27431780, PMID:28492532, PMID:32313153, PMID:32963807 NCBI chr20:4,519,457...4,530,177
Ensembl chr20:4,519,474...4,530,126
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        Gastrointestinal Diseases 2542
          diarrhea 34
            Bile Acid Malabsorption, Primary 1
            Chronic Diarrhea with Villous Atrophy 0
            DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 1
            Infantile Diarrhea + 8
            Satoyoshi Syndrome 0
            Trehalase Deficiency 1
            Vascular Hyalinosis 0
            acute diarrhea 0
            congenital diarrhea + 10
            functional diarrhea 0
            inflammatory diarrhea 0
            motility-related diarrhea 0
            osmotic diarrhea 0
            secretory diarrhea + 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.