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Sitosterolemia

ORPHA:2882 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(11)

  • ArthralgiaHP:0002829
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated circulating sitosterol concentrationHP:0033341
  • Giant plateletsHP:0001902
  • Hemolytic anemiaHP:0001878
  • HypercholesterolemiaHP:0003124
  • MacrothrombocytopeniaHP:0040185
  • Premature coronary artery atherosclerosisHP:0005181
  • SplenomegalyHP:0001744
  • StomatocytosisHP:0004446
  • XanthomatosisHP:0000991

Occasional (29-5%)(2)

  • Aortic valve stenosisHP:0001650
  • Arthralgia/arthritisHP:0005059