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Recessive dystrophic epidermolysis bullosa inversa

ORPHA:79409 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(1)

  • Fragile skinHP:0001030

Frequent (79-30%)(11)

  • Abnormal blistering of the skinHP:0008066
  • Abnormality of the urinary systemHP:0000079
  • AnonychiaHP:0001798
  • Atrophic scarsHP:0001075
  • Carious teethHP:0000670
  • Gastrointestinal inflammationHP:0004386
  • Genital blisteringHP:0031464
  • Localized skin lesionHP:0011355
  • MiliaHP:0001056
  • Nail dystrophyHP:0008404
  • Oral mucosal blistersHP:0200097

Occasional (29-5%)(8)

  • AnemiaHP:0001903
  • Esophageal strictureHP:0002043
  • Growth delayHP:0001510
  • Mitten deformityHP:0004057
  • Palmoplantar blisteringHP:0007446
  • Stenosis of the external auditory canalHP:0000402
  • Urethral strictureHP:0012227
  • Vaginal strictureHP:0025416

Excluded (0%)(8)

  • Abnormal respiratory system morphologyHP:0012252
  • Abnormal scalp morphologyHP:0001965
  • Abnormality of the eyeHP:0000478
  • Basal cell carcinomaHP:0002671
  • Cutaneous melanomaHP:0012056
  • Enamel hypoplasiaHP:0006297
  • Palmoplantar keratodermaHP:0000982
  • Squamous cell carcinomaHP:0002860