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Erdheim-Chester disease

ORPHA:35687 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(16)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Bone painHP:0002653
  • Diabetes insipidusHP:0000873
  • DysuriaHP:0100518
  • FatigueHP:0012378
  • FeverHP:0001945
  • HyperhidrosisHP:0000975
  • Hypogonadotropic hypogonadismHP:0000044
  • Increased bone mineral densityHP:0011001
  • OsteolysisHP:0002797
  • OsteomyelitisHP:0002754
  • PolydipsiaHP:0001959
  • ProptosisHP:0000520
  • Weight lossHP:0001824
  • XanthelasmaHP:0001114

Frequent (79-30%)(5)

  • Abdominal painHP:0002027
  • Abnormal aortic valve morphologyHP:0001646
  • HydronephrosisHP:0000126
  • Joint swellingHP:0001386
  • Retroperitoneal fibrosisHP:0005200

Occasional (29-5%)(20)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal pericardium morphologyHP:0001697
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormality of immune system physiologyHP:0010978
  • AnemiaHP:0001903
  • AtaxiaHP:0001251
  • Avascular necrosisHP:0010885
  • Congestive heart failureHP:0001635
  • CoughHP:0012735
  • DysarthriaHP:0001260
  • DyspneaHP:0002094
  • HyperreflexiaHP:0001347
  • Nausea and vomitingHP:0002017
  • NystagmusHP:0000639
  • Pleural effusionHP:0002202
  • PtosisHP:0000508
  • Pulmonary fibrosisHP:0002206
  • Renal insufficiencyHP:0000083
  • Skin rashHP:0000988
  • Visual impairmentHP:0000505