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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 Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32387182 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21596674 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27611972 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
JBrowse link
G Gucy2c guanylate cyclase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22436048 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9278552 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:20844880 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Lct lactase IDA RGD PMID:15977434 RGD:1600253 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
JBrowse link
G Mir150 microRNA 150 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26937033 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
JBrowse link
G Mme membrane metallo-endopeptidase treatment IMP RGD PMID:3481337 RGD:13801042 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO RGD PMID:20624890 RGD:150520020 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Myo5b myosin Vb ISO CTD Direct Evidence: marker/mechanism CTD PMID:18724368 NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
JBrowse link
G Nfkbia NFKB inhibitor alpha ameliorates ISO human gene in a mouse model RGD PMID:20008138 RGD:126925947 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:23010199 PMID:25741868 PMID:28492532 PMID:28667292 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: therapeutic CTD PMID:19925840 NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:28898457 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO DNA:frameshift mutation, missense mutations RGD PMID:8896562 RGD:1600011 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 PMID:28898457 NCBI chr 8:65,931,891...65,934,893
Ensembl chr 8:65,931,890...65,940,145
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564064 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Diarrhea ClinVar PMID:25741868 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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:15849733 PMID:18572020 PMID:19098912 PMID:19455606 PMID:19820410 More... NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
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:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Diarrhea 6 ClinVar PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
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:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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 OMIM
ClinVar
PMID:16855267 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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 More... NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
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: SODIUM DIARRHEA, CONGENITAL
ClinVar Annotator: match by term: Diarrhea 3, secretory sodium, congenital, syndromic
OMIM
ClinVar
PMID:11113072 PMID:17786112 PMID:19185281 PMID:20009592 PMID:23689399 More... NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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 PMID:28492532 PMID:31276831 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO ClinVar Annotator: match by term: SODIUM DIARRHEA, CONGENITAL ClinVar PMID:25741868 NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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 chr16:18,184,985...18,197,301
Ensembl chr16:18,184,975...18,197,301
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 chr10:14,186,513...14,191,213 JBrowse link
Diarrhea 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Chronic diarrhea ClinVar PMID:25741868 NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
JBrowse link
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: DIARRHEA 9 ClinVar
OMIM
PMID:29909964 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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
RGD
PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 More... RGD:1598959 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 More... NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
JBrowse link
Microvillus Inclusion Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: DIARRHEA 12, WITH MICROVILLUS ATROPHY OMIM
ClinVar
PMID:24726755 PMID:28492532 PMID:29282386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: OSTEOOTOHEPATOENTERIC SYNDROME OMIM
ClinVar
PMID:29429573 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
JBrowse link
Primary Bile Acid Malabsorption 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19823678 PMID:25741868 PMID:28492532 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
Primary Bile Acid Malabsorption 1 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 OMIM NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
Primary Bile Acid Malabsorption 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: BILE ACID MALABSORPTION, PRIMARY, 2 ClinVar PMID:25741868 PMID:28898457 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO ClinVar Annotator: match by term: BILE ACID MALABSORPTION, PRIMARY, 2 OMIM
ClinVar
PMID:25741868 PMID:28898457 NCBI chr 8:65,931,891...65,934,893
Ensembl chr 8:65,931,890...65,940,145
JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE OMIM
ClinVar
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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 chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
JBrowse link
G Skiv2l Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
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 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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 More... NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      gastrointestinal system disease 6237
        Gastrointestinal Diseases 4317
          diarrhea 43
            Chronic Diarrhea with Villous Atrophy 0
            DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 1
            Infantile Diarrhea + 9
            Primary Bile Acid Malabsorption + 3
            Satoyoshi Syndrome 0
            Trehalase Deficiency 1
            Vascular Hyalinosis 0
            acute diarrhea 0
            congenital diarrhea + 12
            functional diarrhea 0
            inflammatory diarrhea 0
            motility-related diarrhea 0
            osmotic diarrhea 0
            secretory diarrhea + 7
paths to the root