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Thiemann disease, familial form

ORPHA:3314 · Disease · Disorder

HPO 表現型（共 5 項）

Very frequent (99-80%)(2)

  • Abnormal epiphysis morphologyHP:0005930
  • Avascular necrosisHP:0010885

Frequent (79-30%)(2)

  • BrachydactylyHP:0001156
  • Limitation of joint mobilityHP:0001376

Occasional (29-5%)(1)

  • Abnormal metaphysis morphologyHP:0000944