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Familial isolated hyperparathyroidism

ORPHA:99879 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(11)

  • ChondrocalcinosisHP:0000934
  • Elevated circulating parathyroid hormone levelHP:0003165
  • Generalized osteoporosisHP:0040160
  • HypercalcemiaHP:0003072
  • HypercalciuriaHP:0002150
  • HyperphosphaturiaHP:0003109
  • HypophosphatemiaHP:0002148
  • NephrocalcinosisHP:0000121
  • OsteopeniaHP:0000938
  • Parathyroid adenomaHP:0002897
  • Primary hyperparathyroidismHP:0008200

Occasional (29-5%)(2)

  • Abdominal symptomHP:0011458
  • Renal insufficiencyHP:0000083