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Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(1)

  • Abnormal epiphysis morphologyHP:0005930

Frequent (79-30%)(5)

  • Arthralgia of the hipHP:0003365
  • Knee painHP:0030839
  • Limb undergrowthHP:0009826
  • Postexertional symptom exacerbationHP:0030973
  • Reduced arm spanHP:0012770

Occasional (29-5%)(16)

  • Abnormal elbow epiphysis morphologyHP:0003946
  • Abnormal patella morphologyHP:0003045
  • Abnormal radial epiphysis morphologyHP:0003999
  • Abnormality of the ankleHP:0003028
  • Abnormality of the epiphyses of the feetHP:0010631
  • Abnormality of the kneeHP:0002815
  • Bilateral coxa valgaHP:0010665
  • Coxa varaHP:0002812
  • Fragmented metacarpal epiphysisHP:0009189
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • OsteoarthritisHP:0002758
  • Radially deviated wristsHP:0006190
  • Short statureHP:0004322
  • Ulnar deviated club handsHP:0006055
  • Waddling gaitHP:0002515

Very rare (<4-1%)(2)

  • Muscle weaknessHP:0001324
  • MyopathyHP:0003198