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Hypophosphatasia

ORPHA:436 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(8)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the dentitionHP:0000164
  • Decreased circulating alkaline phosphatase activityHP:0003282
  • EmphysemaHP:0002097
  • Feeding difficulties in infancyHP:0008872
  • Large fontanellesHP:0000239
  • Narrow chestHP:0000774

Frequent (79-30%)(25)

  • Bone painHP:0002653
  • ChondrocalcinosisHP:0000934
  • Chronic painHP:0012532
  • CraniosynostosisHP:0001363
  • Delayed fracture healingHP:0032537
  • Elevated circulating vitamin B6 concentrationHP:0032477
  • Elevated urine pyrophosphateHP:0003491
  • Failure to thrive in infancyHP:0001531
  • FatigueHP:0012378
  • Gait disturbanceHP:0001288
  • Growth delayHP:0001510
  • HypercalcemiaHP:0003072
  • HypotoniaHP:0001252
  • Increased susceptibility to fracturesHP:0002659
  • Metatarsal fractureHP:0041162
  • Motor delayHP:0001270
  • Pathologic fractureHP:0002756
  • PhosphoethanolaminuriaHP:0003239
  • Premature loss of primary teethHP:0006323
  • Pseudo-fracturesHP:0100036
  • Recurrent fracturesHP:0002757
  • RicketsHP:0002748
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(11)

  • Bowing of the long bonesHP:0006487
  • Carious teethHP:0000670
  • HypercalciuriaHP:0002150
  • Increased intracranial pressureHP:0002516
  • IrritabilityHP:0000737
  • Kidney stoneHP:0000787
  • Muscle weaknessHP:0001324
  • NephrocalcinosisHP:0000121
  • OsteomalaciaHP:0002749
  • Respiratory insufficiencyHP:0002093
  • Skin dimpleHP:0010781