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Junctional epidermolysis bullosa with pyloric atresia

ORPHA:79403 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(6)

  • Abdominal distentionHP:0003270
  • Abnormal blistering of the skinHP:0008066
  • Congenital pyloric atresiaHP:0004399
  • Intestinal atresiaHP:0011100
  • Nausea and vomitingHP:0002017
  • Oral mucosal blistersHP:0200097

Frequent (79-30%)(11)

  • Aplasia of the bladderHP:0010477
  • Enamel hypoplasiaHP:0006297
  • HematuriaHP:0000790
  • HydronephrosisHP:0000126
  • PolyhydramniosHP:0001561
  • Recurrent skin infectionsHP:0001581
  • Renal duplicationHP:0000075
  • Renal dysplasiaHP:0000110
  • UreteroceleHP:0000070
  • Urethral strictureHP:0012227
  • Urinary bladder inflammationHP:0100577

Occasional (29-5%)(4)

  • Aplasia cutis congenitaHP:0001057
  • EctropionHP:0000656
  • Nail dystrophyHP:0008404
  • PterygiumHP:0001059