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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:primary_id: RDO:9002489
 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:18572020, PMID:19820410, PMID:20034091, PMID:20981223, PMID:21315192, PMID:23462293, PMID:24142340, PMID:25637381, PMID:25741868, PMID:28492532, PMID:28701297 NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
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:25741868 NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Diarrhea 6 ClinVar PMID:22436048, PMID:25741868 NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
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:23114594, PMID:25326635, PMID:25741868, PMID:26883093 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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
ClinVar Annotator: match by OMIM:610370
OMIM
ClinVar
PMID:16855267, PMID:25741868 NCBI chr20:31,761,419...31,762,893
Ensembl chr20:31,761,405...31,762,893
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, PMID:11302976, PMID:11524734, PMID:12442266, PMID:18216024, PMID:18728535, PMID:18847625, PMID:19861545, PMID:21127979, PMID:21150650, PMID:21332001, PMID:21394828, PMID:21853658, PMID:22779076, PMID:23756661, PMID:24033266, PMID:24350656, PMID:25568271, PMID:25741868, PMID:27525615, PMID:28422190, PMID:28492532, PMID:28644346, PMID:29086717, PMID:30311386 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
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 OMIM
ClinVar
PMID:11113072, PMID:17786112, PMID:19185281, PMID:20009592, PMID:23689399, PMID:24142340, PMID:30445423 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
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 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
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 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
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:18724368, PMID:19006234, PMID:20186687, PMID:21206382, PMID:24014347, PMID:24033266, PMID:25111220, PMID:25741868, PMID:27242896, PMID:28492532, PMID:29266534 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital diarrhea 10
            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 1
            microvillus inclusion disease 2
Path 2
Term Annotations click to browse term
  disease 16096
    Pathological Conditions, Signs and Symptoms 8720
      Signs and Symptoms 5192
        Digestive Signs and Symptoms 116
          diarrhea 33
            congenital diarrhea 10
              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 1
              microvillus inclusion disease 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.