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Metaphyseal anadysplasia

ORPHA:1040 · Disease · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(9)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal ulnar metaphysis morphologyHP:0004039
  • Abnormality of the lower limbHP:0002814
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Bowing of the long bonesHP:0006487
  • Joint stiffnessHP:0001387
  • Short statureHP:0004322