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Erythrokeratodermia variabilis

ORPHA:317 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(10)

  • Abnormal blistering of the skinHP:0008066
  • Cutaneous photosensitivityHP:0000992
  • ErythemaHP:0010783
  • HyperkeratosisHP:0000962
  • Hypermelanotic maculeHP:0001034
  • MaculeHP:0012733
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Skin rashHP:0000988
  • Weight lossHP:0001824

Frequent (79-30%)(8)

  • Abnormal hair morphologyHP:0001595
  • AlopeciaHP:0001596
  • CataractHP:0000518
  • Diabetes mellitusHP:0000819
  • Dry skinHP:0000958
  • GlaucomaHP:0000501
  • Irregular hyperpigmentationHP:0007400
  • Patchy palmoplantar hyperkeratosisHP:0005588

Occasional (29-5%)(11)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal nail morphologyHP:0001597
  • Abnormal testis morphologyHP:0000035
  • BrachydactylyHP:0001156
  • Corneal opacityHP:0007957
  • Generalized hirsutismHP:0002230
  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249
  • Neoplasm of the skinHP:0008069
  • Protruding earHP:0000411
  • Tapered fingerHP:0001182