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congenital secretory chloride diarrhea 1 - Ontology Report - Rat Genome Database

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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: CONGENITAL SECRETORY DIARRHEA, CHLORIDE TYPE;   DIAR1;   DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL;   Darrow-Gamble disease;   congenital chloride diarrhea;   congenital chloride diarrhea, Finnish type;   congenital chloride diarrhoea Finnish type;   congenital chloridorrhea;   congenital secretory chloride diarrhoea 1
 broad_synonym: SLC26A3-related condition
 xref: MESH:C536210;   MIM:214700;   MONDO:0008964;   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 Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936587:2,742,911...2,811,139
Ensembl chrNW_004936587:2,742,911...2,810,969 		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 secretory diarrhea, chloride type | ClinVar Annotator: match by term: Darrow-Gamble disease | ClinVar Annotator: match by term: SLC26A3-related condition OMIM
ClinVar		 PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 More... NCBI chrNW_004936479:16,350,746...16,374,911
Ensembl chrNW_004936479:16,350,773...16,377,367 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    physical disorder 4907
      congenital diarrhea 15
        congenital secretory chloride diarrhea 1 2
Path 2
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          monogenic disease 10162
            autosomal genetic disease 9757
              autosomal recessive disease 6734
                congenital secretory chloride diarrhea 1 2
paths to the root