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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


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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 C4h12orf60 similar to human chromosome 12 open reading frame 60 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 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 Slc26a3 solute carrier family 26 member 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:214700
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
CTD
MouseDO
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 21122
    physical disorder 4895
      congenital diarrhea 12
        congenital secretory chloride diarrhea 1 3
Path 2
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              autosomal recessive disease 6443
                congenital secretory chloride diarrhea 1 3
paths to the root