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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



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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
ISS
ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA
OMIM:613217
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:18572020 PMID:19820410 PMID:20034091 PMID:20981223 PMID:21315192 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 C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar PMID:22436048 PMID:25741868 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital diarrhea 6 OMIM
ClinVar
PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33883099 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
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: 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS
OMIM
CTD
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: Congenital secretory diarrhea, chloride 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 Slc26a3 solute carrier family 26 member 3 ISO
ISS
ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type | ClinVar Annotator: match by term: SLC26A3-related condition
OMIM:214700
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea
OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8
OMIM
CTD
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
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO ClinVar Annotator: match by term: Congenital sodium diarrhea ClinVar PMID:25741868 PMID:28492532 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
ISS
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:251850
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 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 18970
    physical disorder 4974
      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 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 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Digestive Signs and Symptoms 196
          diarrhea 110
            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 2
              congenital secretory sodium diarrhea 3 1
              congenital secretory sodium diarrhea 8 2
              microvillus inclusion disease + 3
paths to the root