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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;   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: MESH:C567490;   OMIM:270420
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: Congenital secretory sodium diarrhea 3 OMIM
ClinVar		 PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 More... NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    physical disorder 5116
      congenital diarrhea 12
        congenital secretory sodium diarrhea 3 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            autosomal genetic disease 9395
              autosomal recessive disease 6475
                congenital secretory sodium diarrhea 3 1
paths to the root