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;   Sodium Diarrhea, Congenital;   congenital secretory sodium diarrhea 3, syndromic
 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

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          congenital secretory sodium diarrhea 3 1
Path 2
Term Annotations click to browse term
  disease 14823
    Pathological Conditions, Signs and Symptoms 7275
      Signs and Symptoms 4084
        Signs and Symptoms, Digestive 100
          diarrhea 27
            congenital diarrhea 9
              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.