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ONTOLOGY REPORT - ANNOTATIONS


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 chloridorrhea
 primary_id: MESH:C536210
 alt_id: OMIM:214700;   RDO:0001691
 xref: ORDO:53689
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congenital secretory chloride diarrhea 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a3 solute carrier family 26 member 3 JBrowse link 6 50,725,085 50,766,306 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          congenital secretory chloride diarrhea 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                congenital secretory chloride diarrhea 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.