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Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(8)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal skin pigmentationHP:0001000
  • Aplasia cutis congenitaHP:0001057
  • Atrophic scarsHP:0001075
  • MiliaHP:0001056
  • Oral mucosal blistersHP:0200097
  • Scarring alopecia of scalpHP:0004552
  • Sparse body hairHP:0002231

Frequent (79-30%)(3)

  • AnemiaHP:0001903
  • AnonychiaHP:0001798
  • Nail dystrophyHP:0008404

Occasional (29-5%)(3)

  • Enamel hypoplasiaHP:0006297
  • Growth delayHP:0001510
  • Palmoplantar keratodermaHP:0000982