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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:31325522 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 16085
    physical disorder 2526
      congenital secretory chloride diarrhea 1 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                congenital secretory chloride diarrhea 1 1
paths to the root