ZFIN Human Disease: congenital diarrhea 5 with tufting enteropathy

OBO ID: DOID:0060776

Term Name:	congenital diarrhea 5 with tufting enteropathy		Search Ontology:
Synonyms:	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 DIAR5 tufting enteropathy
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. (2)
References:	ICD10CM:P78.3 OMIM:613217 ORDO:92050
Ontology:	Human Disease ( DOID:0060776 )

Relationships

is a type of:	autosomal recessive disease congenital diarrhea autosomal recessive disease congenital diarrhea Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EPCAM	epcam	Diarrhea 5, with tufting enteropathy, congenital	613217

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None