← 返回搜尋

Metachondromatosis

ORPHA:2499 · Malformation syndrome · Disorder

HPO 表現型(共 7 項)

Very frequent (99-80%)(7)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Avascular necrosisHP:0010885
  • Bone painHP:0002653
  • Cranial nerve paralysisHP:0006824
  • ExostosesHP:0100777
  • Multiple enchondromatosisHP:0005701