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Progressive familial intrahepatic cholestasis

ORPHA:172 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(9)

  • Abnormality of coagulationHP:0001928
  • CholestasisHP:0001396
  • Cognitive impairmentHP:0100543
  • Failure to thriveHP:0001508
  • HepatomegalyHP:0002240
  • JaundiceHP:0000952
  • MalabsorptionHP:0002024
  • Short statureHP:0004322
  • SplenomegalyHP:0001744

Frequent (79-30%)(4)

  • Abnormality of thrombocytesHP:0001872
  • Delayed skeletal maturationHP:0002750
  • HypocalcemiaHP:0002901
  • Reduced bone mineral densityHP:0004349

Occasional (29-5%)(1)

  • NeoplasmHP:0002664