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Hereditary hypophosphatemic rickets with hypercalciuria

ORPHA:157215 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(9)

  • Decreased circulating parathyroid hormone levelHP:0031817
  • Elevated alkaline phosphatase of bone originHP:0010639
  • Elevated circulating beta-CTX concentrationHP:0031425
  • Elevated circulating calcitriol concentrationHP:0031415
  • HypercalciuriaHP:0002150
  • HyperphosphaturiaHP:0003109
  • HypophosphatemiaHP:0002148
  • Hypophosphatemic ricketsHP:0004912
  • Increased circulating osteocalcin levelHP:0031428

Frequent (79-30%)(7)

  • Abnormality of the skeletal systemHP:0000924
  • Bone painHP:0002653
  • Growth delayHP:0001510
  • Kidney stoneHP:0000787
  • Medullary nephrocalcinosisHP:0012408
  • OsteomalaciaHP:0002749
  • Reduced bone mineral densityHP:0004349

Occasional (29-5%)(5)

  • Bowing of the legsHP:0002979
  • Pathologic fractureHP:0002756
  • Rachitic rosaryHP:0000897
  • Short statureHP:0004322
  • Waddling gaitHP:0002515