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Kindler epidermolysis bullosa

ORPHA:2908 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(7)

  • Abnormal blistering of the skinHP:0008066
  • Aplasia/Hypoplasia of the skinHP:0008065
  • CheilitisHP:0100825
  • Cutaneous photosensitivityHP:0000992
  • ErythemaHP:0010783
  • Palmoplantar keratodermaHP:0000982
  • PoikilodermaHP:0001029

Frequent (79-30%)(15)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal skin pigmentationHP:0001000
  • Abnormal toenail morphologyHP:0008388
  • Camptodactyly of fingerHP:0100490
  • Carious teethHP:0000670
  • ColitisHP:0002583
  • DysphagiaHP:0002015
  • Esophageal strictureHP:0002043
  • EsophagitisHP:0100633
  • Finger syndactylyHP:0006101
  • GingivitisHP:0000230
  • PeriodontitisHP:0000704
  • PhimosisHP:0001741
  • Premature loss of primary teethHP:0006323
  • Recurrent skin infectionsHP:0001581

Occasional (29-5%)(19)

  • Abnormal rib morphologyHP:0000772
  • Abnormal skull morphologyHP:0000929
  • Abnormality of the anusHP:0004378
  • AnemiaHP:0001903
  • Atypical scarring of skinHP:0000987
  • ConjunctivitisHP:0000509
  • Corneal opacityHP:0007957
  • EctropionHP:0000656
  • Flexion contractureHP:0001371
  • HyperkeratosisHP:0000962
  • Inflammation of the large intestineHP:0002037
  • Laryngeal stenosisHP:0001602
  • MiliaHP:0001056
  • Neoplasm of the urethraHP:0100517
  • Short 4th metacarpalHP:0010044
  • Short 5th metacarpalHP:0010047
  • Squamous cell carcinomaHP:0002860
  • TurricephalyHP:0000262
  • Urethral strictureHP:0012227