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Metaphyseal chondrodysplasia, Rosenberg type

ORPHA:1837 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(5)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal morphology of ulnaHP:0040071
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Delayed skeletal maturationHP:0002750

Frequent (79-30%)(4)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal vertebral body morphologyHP:0003312
  • Short statureHP:0004322

Occasional (29-5%)(6)

  • Abnormal dental morphologyHP:0006482
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the voiceHP:0001608
  • Depressed nasal ridgeHP:0000457
  • Kidney stoneHP:0000787
  • MicrodontiaHP:0000691