congenital secretory sodium diarrhea 3

Term ID

DOID:0060781

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/19185281

References

• ICD10CM:P78.3
• OMIM:270420
• ORDO:103908

Ontology

Human Disease   ( DOID:0060781 )