congenital secretory sodium diarrhea 3

Summary
Synonym
  • 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
Definition
A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.
Super Class
autosomal recessive disease physical disorder secretory diarrhea
Disease Ontology
DOID:0060781
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10653 SPINT2 serine peptidase inhibitor, Kunitz type 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
20733 Spint2 serine protease inhibitor, Kunitz type 2

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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: December 9, 2024