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Ollier disease

ORPHA:296 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(7)

  • Abnormal cartilage morphologyHP:0002763
  • Abnormal metaphysis morphologyHP:0000944
  • HemangiomaHP:0001028
  • MicromeliaHP:0002983
  • Multiple enchondromatosisHP:0005701
  • OsteolysisHP:0002797
  • Visceral angiomatosisHP:0100761

Frequent (79-30%)(3)

  • Bone painHP:0002653
  • Joint stiffnessHP:0001387
  • Subcutaneous noduleHP:0001482

Occasional (29-5%)(16)

  • ChondrosarcomaHP:0006765
  • Cranial nerve paralysisHP:0006824
  • Cubitus valgusHP:0002967
  • Facial asymmetryHP:0000324
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • Lower limb asymmetryHP:0100559
  • LymphangiomaHP:0100764
  • Madelung deformityHP:0003067
  • NeoplasmHP:0002664
  • Pathologic fractureHP:0002756
  • SarcomaHP:0100242
  • ScoliosisHP:0002650
  • Skin ulcerHP:0200042
  • Upper limb asymmetryHP:0100560
  • Venous thrombosisHP:0004936