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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.


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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 OMIM:214700
ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
ClinVar Annotator: match by term: Darrow-Gamble disease
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, PMID:31680349 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          congenital secretory chloride diarrhea 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                congenital secretory chloride diarrhea 1 1
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.