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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital secretory sodium diarrhea 3
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Accession:DOID:0060781 term browser browse the term
Definition:A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CSD;   DIAR3;   DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES;   congenital secretory sodium diarrhea 3, syndromic;   congenital sodium diarrhea
 primary_id: MESH:C562576;   MESH:C567490
 alt_id: OMIM:270420;   RDO:0012229;   RDO:0015551
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congenital secretory sodium diarrhea 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 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 sodium diarrhea 3 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 sodium diarrhea 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.