congenital secretory sodium diarrhea 3

Summary

DOID:0060781 - congenital secretory sodium diarrhea 3

Disease Ontology Definition:A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: spint2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010036 - congenital secretory sodium diarrhea 3

MONDO:0010036 - congenital secretory sodium diarrhea 3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), physical disorder (is_a), secretory diarrhea (is_a)