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Congenital tufting enteropathy

ORPHA:92050 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(4)

  • Chronic diarrheaHP:0002028
  • Failure to thriveHP:0001508
  • MalabsorptionHP:0002024
  • Villous atrophyHP:0011473

Frequent (79-30%)(8)

  • Abdominal distentionHP:0003270
  • Abnormal small intestinal mucosa morphologyHP:0025129
  • DehydrationHP:0001944
  • Elevated fecal osmolalityHP:0032486
  • IrritabilityHP:0000737
  • Secretory diarrheaHP:0005208
  • SteatorrheaHP:0002570
  • Weight lossHP:0001824

Occasional (29-5%)(6)

  • Abnormal large intestinal mucosa morphologyHP:0025090
  • Abnormality of the skinHP:0000951
  • ArthritisHP:0001369
  • CataractHP:0000518
  • Corneal erosionHP:0200020
  • PhotophobiaHP:0000613

Very rare (<4-1%)(8)

  • Anal atresiaHP:0002023
  • Choanal atresiaHP:0000453
  • Cholestatic liver diseaseHP:0002611
  • Optic disc colobomaHP:0000588
  • Orofacial cleftHP:0000202
  • Punctate keratitisHP:0011859
  • Skeletal dysplasiaHP:0002652
  • VomitingHP:0002013