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Ghosal hematodiaphyseal dysplasia

ORPHA:1802 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(11)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal femur morphologyHP:0002823
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal tibia morphologyHP:0002992
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of immune system physiologyHP:0010978
  • AnemiaHP:0001903
  • Bowing of the long bonesHP:0006487
  • Craniofacial hyperostosisHP:0004493
  • Diaphyseal undertubulationHP:0005019

Occasional (29-5%)(2)

  • Abnormal speech patternHP:0002167
  • SplenomegalyHP:0001744