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Cholestasis-lymphedema syndrome

ORPHA:1414 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(12)

  • Abdominal painHP:0002027
  • Abnormality of the lymphatic systemHP:0100763
  • Abnormality of urine homeostasisHP:0003110
  • Acholic stoolsHP:0011985
  • Biliary tract abnormalityHP:0001080
  • FatigueHP:0012378
  • HepatomegalyHP:0002240
  • HyperlipidemiaHP:0003077
  • JaundiceHP:0000952
  • LymphedemaHP:0001004
  • Nausea and vomitingHP:0002017
  • Neonatal cholestatic liver diseaseHP:0006566

Frequent (79-30%)(3)

  • Abnormal skin pigmentationHP:0001000
  • Multiple lipomasHP:0001012
  • SplenomegalyHP:0001744

Occasional (29-5%)(5)

  • Bone painHP:0002653
  • CirrhosisHP:0001394
  • Gastrointestinal hemorrhageHP:0002239
  • Portal hypertensionHP:0001409
  • Reduced bone mineral densityHP:0004349