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Congenital tufting enteropathy

Disease definition

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.


Classification level: Disorder
  • Synonym(s):
    • IED
    • Intestinal epithelial dysplasia
    • Non-syndromic congenital tufting enteropathy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: P78.3
  • OMIM: 613217
  • UMLS: -
  • MeSH: -
  • GARD: 10630
  • MedDRA: -

Detailed information


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