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congenital secretory sodium diarrhea 3 - 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 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;   SPINT2-RELATED CONDITION;   congenital secretory sodium diarrhea 3, syndromic;   congenital secretory sodium diarrhea 3, with or without other congenital anomalies;   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
 alt_id: MIM:270420

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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: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea | ClinVar Annotator: match by term: SPINT2-related condition OMIM
ClinVar		 PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 More... NCBI chrNW_004936801:1,041,946...1,069,617
Ensembl chrNW_004936801:1,041,708...1,069,776 		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 sodium diarrhea 3 1
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 sodium diarrhea 3 1
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