← 返回搜尋

Autosomal recessive hypophosphatemic rickets

ORPHA:289176 · Disease · Disorder

HPO 表現型（共 37 項）

Obligate (100%)(1)

  • Hypophosphatemic ricketsHP:0004912

Very frequent (99-80%)(25)

  • Abnormal circulating vitamin D concentrationHP:0100511
  • Abnormal trabecular bone morphologyHP:0100671
  • Abnormality of renal excretionHP:0011036
  • Abnormality of the lower limbHP:0002814
  • Bone painHP:0002653
  • Coxa varaHP:0002812
  • Decreased circulating calcitriol concentrationHP:0012052
  • Delayed eruption of teethHP:0000684
  • Distal femoral bowingHP:0005096
  • Elevated alkaline phosphatase of bone originHP:0010639
  • Enlargement of the wristsHP:0003020
  • Genu varumHP:0002970
  • Growth delayHP:0001510
  • HyperphosphaturiaHP:0003109
  • Increased bone mineral densityHP:0011001
  • Lower limb asymmetryHP:0100559
  • OsteomalaciaHP:0002749
  • Polyarticular arthritisHP:0005764
  • Renal hypophosphatemiaHP:0008732
  • Renal phosphate wastingHP:0000117
  • Rickets of the lower limbsHP:0006463
  • Sclerotic vertebral endplatesHP:0004576
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(8)

  • Abnormal sacroiliac joint morphologyHP:0100781
  • CraniosynostosisHP:0001363
  • EnthesitisHP:0100686
  • MalabsorptionHP:0002024
  • Pseudo-fracturesHP:0100036
  • Spinal canal stenosisHP:0003416
  • Tibial bowingHP:0002982
  • Tooth abscessHP:0030757

Excluded (0%)(3)

  • Hypocalcemic tetanyHP:0003472
  • Muscle weaknessHP:0001324
  • SeizureHP:0001250