← 返回搜尋

Autosomal dominant hypophosphatemic rickets

ORPHA:89937 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(2)

  • HyperphosphaturiaHP:0003109
  • HypophosphatemiaHP:0002148

Frequent (79-30%)(11)

  • Bone painHP:0002653
  • Bowing of the legsHP:0002979
  • Decreased circulating vitamin D concentrationHP:0100512
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • FatigueHP:0012378
  • Growth delayHP:0001510
  • Iron deficiency anemiaHP:0001891
  • Muscle weaknessHP:0001324
  • OsteomalaciaHP:0002749
  • RicketsHP:0002748
  • Tooth abscessHP:0030757

Occasional (29-5%)(1)

  • Bone fractureHP:0020110

Very rare (<4-1%)(1)

  • HypocalcemiaHP:0002901