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Palmoplantar keratoderma-esophageal carcinoma syndrome

ORPHA:2198 · Disease · Disorder

HPO 表現型(共 15 項)

Very frequent (99-80%)(5)

  • Abnormal large intestine morphologyHP:0002250
  • Esophageal neoplasmHP:0100751
  • Gastrointestinal hemorrhageHP:0002239
  • Nausea and vomitingHP:0002017
  • Palmoplantar keratodermaHP:0000982

Frequent (79-30%)(9)

  • Abnormal esophagus physiologyHP:0025270
  • Abnormal mediastinum morphologyHP:0045026
  • AscitesHP:0001541
  • DysphagiaHP:0002015
  • Gastroesophageal refluxHP:0002020
  • HepatomegalyHP:0002240
  • Poor appetiteHP:0004396
  • Poor suckHP:0002033
  • Weight lossHP:0001824

Occasional (29-5%)(1)

  • Clubbing of toesHP:0100760