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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