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congenital diarrhea - Ontology Report - Rat Genome Database

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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:congenital diarrhea
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Accession:DOID:0060774 term browser browse the term
Definition:A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO)
Synonyms:xref: MIM:PS214700

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show annotations for term's descendants           Sort by:
congenital diarrhea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grwd1 glutamate rich WD repeat containing 1 ISO ClinVar Annotator: match by term: Congenital diarrhea ClinVar PMID:25741868 NCBI chrNW_004936664:2,548,178...2,555,234
Ensembl chrNW_004936664:2,547,789...2,555,887 		JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Congenital diarrhea ClinVar PMID:25741868 NCBI chrNW_004936529:1,513,796...1,527,121
Ensembl chrNW_004936529:1,513,753...1,527,506 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Congenital diarrhea ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004936646:1,238,630...1,258,491
Ensembl chrNW_004936646:1,238,865...1,258,040 		JBrowse link
congenital diarrhea 5 with tufting enteropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: EPCAM-related condition | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA OMIM
ClinVar		 PMID:18572020 PMID:19820410 PMID:20034091 PMID:20981223 PMID:21315192 More... NCBI chrNW_004936508:5,019,513...5,032,610
Ensembl chrNW_004936508:5,019,918...5,032,414 		JBrowse link
congenital diarrhea 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf60 chromosome unknown C12orf60 homolog ISO ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar PMID:22436048 PMID:25741868 NCBI chrNW_004936587:2,650,860...2,651,996 JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital diarrhea 6 | ClinVar Annotator: match by term: GUCY2C-related condition OMIM
ClinVar		 PMID:16199547 PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936587:2,742,911...2,811,139
Ensembl chrNW_004936587:2,742,911...2,810,969 		JBrowse link
congenital diarrhea 7 with exudative enteropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chrNW_004936470:7,916,438...7,926,089
Ensembl chrNW_004936470:7,916,438...7,926,088 		JBrowse link
congenital malabsorptive diarrhea 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurog3 neurogenin 3 ISO ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS OMIM
ClinVar		 PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 More... NCBI chrNW_004936521:8,932,998...8,933,645
Ensembl chrNW_004936521:8,932,998...8,933,645 		JBrowse link
congenital secretory chloride diarrhea 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936587:2,742,911...2,811,139
Ensembl chrNW_004936587:2,742,911...2,810,969 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type | ClinVar Annotator: match by term: Darrow-Gamble disease | ClinVar Annotator: match by term: SLC26A3-related condition OMIM
ClinVar		 PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 More... NCBI chrNW_004936479:16,350,746...16,374,911
Ensembl chrNW_004936479:16,350,773...16,377,367 		JBrowse link
congenital secretory sodium diarrhea 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea | ClinVar Annotator: match by term: SPINT2-related condition OMIM
ClinVar		 PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 More... NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776 		JBrowse link
congenital secretory sodium diarrhea 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 | ClinVar Annotator: match by term: SLC9A3-related condition OMIM
ClinVar		 PMID:3880821 PMID:16199547 PMID:25741868 PMID:26358773 PMID:28492532 More... NCBI chrNW_004936815:963,715...999,280
Ensembl chrNW_004936815:963,715...999,280 		JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type 2 ISO ClinVar Annotator: match by term: Congenital sodium diarrhea ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776 		JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO OMIM:251850 MouseDO NCBI chrNW_004936474:7,556,765...7,598,687 JBrowse link
G Myo5b myosin VB ISO ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chrNW_004936497:12,932,367...13,236,916
Ensembl chrNW_004936497:12,932,789...13,234,244 		JBrowse link
Microvillus Inclusion Disease 2 term browser
Symbol Object Name 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 | ClinVar Annotator: match by term: STX3-related condition OMIM
ClinVar		 PMID:24726755 PMID:28492532 PMID:29282386 NCBI chrNW_004936581:2,944,230...2,976,957
Ensembl chrNW_004936581:2,941,953...2,971,405 		JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name 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 | ClinVar Annotator: match by term: UNC45A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chrNW_004936483:16,072,421...16,087,286
Ensembl chrNW_004936483:16,072,663...16,087,218 		JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name 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 chrNW_004936581:2,944,230...2,976,957
Ensembl chrNW_004936581:2,941,953...2,971,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    physical disorder 4906
      congenital diarrhea 15
        Microvillus Inclusion Disease 2 1
        Osteootohepatoenteric Syndrome 1
        congenital diarrhea 5 with tufting enteropathy 1
        congenital diarrhea 6 2
        congenital diarrhea 7 with exudative enteropathy 1
        congenital malabsorptive diarrhea 4 1
        congenital secretory chloride diarrhea 1 2
        congenital secretory sodium diarrhea 3 1
        congenital secretory sodium diarrhea 8 2
        microvillus inclusion disease + 3
Path 2
Term Annotations click to browse term
  disease 14638
    Pathological Conditions, Signs and Symptoms 11559
      Signs and Symptoms 9742
        Digestive Signs and Symptoms 187
          diarrhea 110
            congenital diarrhea 15
              Microvillus Inclusion Disease 2 1
              Osteootohepatoenteric Syndrome 1
              congenital diarrhea 5 with tufting enteropathy 1
              congenital diarrhea 6 2
              congenital diarrhea 7 with exudative enteropathy 1
              congenital malabsorptive diarrhea 4 1
              congenital secretory chloride diarrhea 1 2
              congenital secretory sodium diarrhea 3 1
              congenital secretory sodium diarrhea 8 2
              microvillus inclusion disease + 3
paths to the root