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:
Ontology: Human Disease   (DOID:0060776)
OTHER congenital diarrhea 5 with tufting enteropathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPCAM Diarrhea 5, with tufting enteropathy, congenital 613217
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None