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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 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 secretory sodium diarrhoea 3;   congenital secretory sodium diarrhoea 3 syndromic;   congenital secretory sodium diarrhoea 3 with or without other congenital anomalies;   congenital sodium diarrhea
 primary_id: MESH:C562576;   MESH:C567490
 alt_id: OMIM:270420;   RDO:0012229;   RDO:0015551
For additional species annotation, visit the Alliance of Genome Resources.


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congenital secretory sodium diarrhea 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO ClinVar Annotator: match by term: Diarrhea 3, secretory sodium, congenital, syndromic OMIM
ClinVar
PMID:11113072, PMID:17786112, PMID:19185281, PMID:20009592, PMID:23689399, PMID:24142340, PMID:30445423 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2232
          congenital secretory sodium diarrhea 3 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                congenital secretory sodium diarrhea 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.