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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: OMIM:PS214700
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 OMIM
ClinVar		 PMID:15849733 PMID:16199547 PMID:18572020 PMID:19098912 PMID:19455606 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital diarrhea 6 OMIM
ClinVar		 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: Congenital 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 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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurog3 neurogenin 3 ISO ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 OMIM
ClinVar		 PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 More... 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE ClinVar 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: Darrow-Gamble disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237 		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 chloride diarrhea | ClinVar Annotator: match by term: Darrow-Gamble disease 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 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 OMIM
ClinVar		 PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 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 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 OMIM
ClinVar		 PMID:3880821 PMID:25741868 PMID:26358773 PMID:28492532 PMID:30633106 More... NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417 		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 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 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 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 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:28492532 PMID:29429573 PMID:31231135 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586 		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 chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    physical disorder 5116
      congenital diarrhea 12
        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 3
        congenital secretory sodium diarrhea 3 1
        congenital secretory sodium diarrhea 8 1
        microvillus inclusion disease + 3
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Digestive Signs and Symptoms 191
          diarrhea 107
            congenital diarrhea 12
              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 3
              congenital secretory sodium diarrhea 3 1
              congenital secretory sodium diarrhea 8 1
              microvillus inclusion disease + 3
paths to the root