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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 secretory chloride diarrhea 1
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Accession:DOID:0060296 term browser browse the term
Definition:A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. (DO)
Synonyms:exact_synonym: DIAR1;   Darrow-Gamble disease;   congenital chloride diarrhea;   congenital chloride diarrhea, Finnish type;   congenital chloride diarrhoea Finnish type;   congenital chloridorrhea;   congenital secretory chloride diarrhoea 1
 primary_id: MESH:C536210
 alt_id: OMIM:214700
 xref: ORDO:53689
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    physical disorder 4327
      congenital diarrhea 12
        congenital secretory chloride diarrhea 1 3
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal recessive disease 4968
                congenital secretory chloride diarrhea 1 3
paths to the root