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congenital secretory sodium diarrhea 8

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.
Uniprot Description A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations.
Disease Ontology Description A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.
Mondo Term and Equivalent IDs
MONDO:0014808:  congenital secretory sodium diarrhea 8
UMLS:CN515063: