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Hypocalcemic vitamin D-resistant rickets

ORPHA:93160 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(11)

  • Abnormal bone structureHP:0003330
  • Bone cystHP:0012062
  • Bone painHP:0002653
  • Coarse metaphyseal trabecularizationHP:0100670
  • HyperparathyroidismHP:0000843
  • HypocalcemiaHP:0002901
  • HypophosphatemiaHP:0002148
  • Joint dislocationHP:0001373
  • OsteolysisHP:0002797
  • OsteomalaciaHP:0002749
  • Recurrent fracturesHP:0002757

Frequent (79-30%)(13)

  • Abnormal adipose tissue morphologyHP:0009124
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal thorax morphologyHP:0000765
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the skinHP:0000951
  • AlopeciaHP:0001596
  • DolichocephalyHP:0000268
  • Gait disturbanceHP:0001288
  • Genu varumHP:0002970
  • Kidney stoneHP:0000787
  • Premature loss of primary teethHP:0006323
  • Short statureHP:0004322

Occasional (29-5%)(4)

  • Abnormality of the dentitionHP:0000164
  • Frontal bossingHP:0002007
  • Genu valgumHP:0002857
  • ScoliosisHP:0002650