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Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

ORPHA:79408 · Disease · Disorder

HPO 表現型（共 58 項）

Very frequent (99-80%)(12)

  • Abnormal blistering of the skinHP:0008066
  • AnemiaHP:0001903
  • Atrophic scarsHP:0001075
  • Carious teethHP:0000670
  • Chronic painHP:0012532
  • Flexion contractureHP:0001371
  • Fragile skinHP:0001030
  • Gastrointestinal inflammationHP:0004386
  • Growth delayHP:0001510
  • MiliaHP:0001056
  • Mitten deformityHP:0004057
  • Oral mucosal blistersHP:0200097

Frequent (79-30%)(11)

  • Abnormal scalp morphologyHP:0001965
  • Abnormality of the eyeHP:0000478
  • AnonychiaHP:0001798
  • AnxietyHP:0000739
  • Chronic cutaneous woundHP:0032676
  • DepressionHP:0000716
  • Erosion of oral mucosaHP:0031446
  • Generalized abnormality of skinHP:0011354
  • Iron deficiency anemiaHP:0001891
  • Nail dystrophyHP:0008404
  • Squamous cell carcinomaHP:0002860

Occasional (29-5%)(29)

  • Abnormal circulating selenium concentrationHP:0031903
  • Abnormality of vitamin metabolismHP:0100508
  • Anal fissureHP:0012390
  • AnkyloglossiaHP:0010296
  • Aplasia cutis congenitaHP:0001057
  • Chronic kidney diseaseHP:0012622
  • Corneal erosionHP:0200020
  • Cutaneous melanomaHP:0012056
  • Decreased circulating vitamin D concentrationHP:0100512
  • Decreased plasma total carnitineHP:0011936
  • Decreased serum zincHP:0031831
  • Delayed pubertyHP:0000823
  • Dilated cardiomyopathyHP:0001644
  • DysphagiaHP:0002015
  • Esophageal ulcerationHP:0004791
  • Foot joint contractureHP:0008366
  • Gastroesophageal refluxHP:0002020
  • GlomerulonephritisHP:0000099
  • IgA deposition in the glomerulusHP:0000794
  • MalnutritionHP:0004395
  • Narrow mouthHP:0000160
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Recurrent skin infectionsHP:0001581
  • Renal amyloidosisHP:0001917
  • Renal insufficiencyHP:0000083
  • Urethral strictureHP:0012227
  • Urinary bladder sphincter dysfunctionHP:0002839
  • Visual lossHP:0000572

Very rare (<4-1%)(2)

  • Abnormality of the urinary systemHP:0000079
  • Genital blisteringHP:0031464

Excluded (0%)(4)

  • Abnormal respiratory system morphologyHP:0012252
  • Basal cell carcinomaHP:0002671
  • Enamel hypoplasiaHP:0006297
  • Palmoplantar keratodermaHP:0000982