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Severe generalized junctional epidermolysis bullosa

ORPHA:79404 · Disease · Disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(11)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal nail morphologyHP:0001597
  • Abnormal oral mucosa morphologyHP:0011830
  • Enamel hypoplasiaHP:0006297
  • Failure to thriveHP:0001508
  • Fragile skinHP:0001030
  • Growth delayHP:0001510
  • Hypoplastic dermoepidermal hemidesmosomesHP:0020117
  • Recurrent skin infectionsHP:0001581
  • Skin erosionHP:0200041
  • Skin plaqueHP:0200035

Frequent (79-30%)(9)

  • Abnormal fingertip morphologyHP:0001211
  • AnemiaHP:0001903
  • AnonychiaHP:0001798
  • DyspneaHP:0002094
  • Erosion of oral mucosaHP:0031446
  • Hoarse voiceHP:0001609
  • MalnutritionHP:0004395
  • ParonychiaHP:0001818
  • StridorHP:0010307

Occasional (29-5%)(37)

  • Abnormal circulating electrolyte concentrationHP:0003111
  • Abnormal cornea morphologyHP:0000481
  • Abnormality of the bladderHP:0000014
  • Abnormality of the upper respiratory tractHP:0002087
  • AlopeciaHP:0001596
  • Aplasia cutis congenitaHP:0001057
  • Aplasia/Hypoplasia of the bladderHP:0010476
  • ConstipationHP:0002019
  • DehydrationHP:0001944
  • Dilated cardiomyopathyHP:0001644
  • Duplicated collecting systemHP:0000081
  • DysuriaHP:0100518
  • EdemaHP:0000969
  • Esophageal strictureHP:0002043
  • Gastrointestinal inflammationHP:0004386
  • Hoarse cryHP:0001615
  • HydronephrosisHP:0000126
  • HydroureterHP:0000072
  • Laryngeal stenosisHP:0001602
  • Mitten deformityHP:0004057
  • Multicystic kidney dysplasiaHP:0000003
  • Nail dystrophyHP:0008404
  • OsteoporosisHP:0000939
  • PneumoniaHP:0002090
  • Recurrent urinary tract infectionsHP:0000010
  • Renal cystHP:0000107
  • Renal tubular epithelial necrosisHP:0008682
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • SepsisHP:0100806
  • Squamous cell carcinomaHP:0002860
  • Unexplained feversHP:0001955
  • Ureteral obstructionHP:0006000
  • UreteroceleHP:0000070
  • Urethral strictureHP:0012227
  • Urinary retentionHP:0000016
  • VomitingHP:0002013

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

  • BradycardiaHP:0001662
  • PneumothoraxHP:0002107
  • PyodermaHP:0000999
  • SeizureHP:0001250