congenital secretory chloride diarrhea 1

Summary
Synonym
  • congenital chloride diarrhea finnish type
  • congenital chloride diarrhoea finnish type
  • congenital chloridorrhea
  • congenital secretory chloride diarrhoea 1
Definition
A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene.
Super Class
autosomal recessive disease physical disorder secretory diarrhea
Disease Ontology
DOID:0060296
Mondo Disease Ontology
MeSH
UMLS
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1811 SLC26A3 solute carrier family 26 member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
13487 Slc26a3 solute carrier family 26, member 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P40879 Chloride anion exchanger
Displaying 1 entry
UniProt ID Protein Name Source
Q9WVC8 Chloride anion exchanger

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025