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Human Disease

congenital diarrhea 5 with tufting enteropathy

Term ID
DOID:0060776
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
Ontology
Human Disease   ( DOID:0060776 )
Relationships
is a type of
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Genes Involved
Zebrafish Models