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DO Term : congenital diarrhea 5 with tufting enteropathy [DOID:0060776] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • ICD10CM:P78.3,
  • congenital familial intractable diarrhea with epithelial or epithelium abnormalities,
  • DIAR5,
  • congenital familial intractable diarrhoea with epithelial or epithelium abnormalities,
  • 613217,
  • OMIM:613217,
  • congenital tufting enteropathy,
  • ORDO:92050,
  • tufting enteropathy,
  • congenital diarrhoea 5 with tufting enteropathy
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