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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.



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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: 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 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 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 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:25741868 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 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 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
ClinVar Annotator: match by term: SODIUM DIARRHEA, CONGENITAL
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 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
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
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 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:29429573 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
PMID:33974130 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 17286
    physical disorder 3106
      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 1
        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 17286
    Pathological Conditions, Signs and Symptoms 10291
      Signs and Symptoms 6532
        Digestive Signs and Symptoms 117
          diarrhea 43
            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 1
              congenital secretory sodium diarrhea 3 1
              congenital secretory sodium diarrhea 8 2
              microvillus inclusion disease + 3
paths to the root