congenital diarrhea 5 with tufting enteropathy

Summary

DOID:0060776 - congenital diarrhea 5 with tufting enteropathy

Disease Ontology Definition:A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.

Synonyms: DIAR5, congenital diarrhoea 5 with tufting enteropathy, congenital familial intractable diarrhea with epithelial or epithelium abnormalities, congenital familial intractable diarrhoea with epithelial or epithelium abnormalities, congenital tufting enteropathy, tufting enteropathy,

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

: epcam

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013184 - congenital diarrhea 5 with tufting enteropathy

MONDO:0013184 - congenital diarrhea 5 with tufting enteropathy

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

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

Parent(s): autosomal recessive disease (is_a), congenital diarrhea (is_a)