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Primary hyperoxaluria

ORPHA:416 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(2)

  • Calcium oxalate nephrolithiasisHP:0008672
  • HyperoxaluriaHP:0003159

Frequent (79-30%)(25)

  • Abnormal dental pulp morphologyHP:0006479
  • Abnormality of the dentitionHP:0000164
  • AciduriaHP:0012072
  • Arterial occlusionHP:0025324
  • Bone painHP:0002653
  • Choroidal neovascularizationHP:0011506
  • Chronic kidney diseaseHP:0012622
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated urine glycolateHP:0031981
  • Failure to thriveHP:0001508
  • GangreneHP:0100758
  • Generalized osteosclerosisHP:0005789
  • Heart blockHP:0012722
  • HematuriaHP:0000790
  • Intermittent claudicationHP:0004417
  • Metabolic acidosisHP:0001942
  • NephrocalcinosisHP:0000121
  • Optic atrophyHP:0000648
  • Optic disc pallorHP:0000543
  • Peripheral neuropathyHP:0009830
  • Raynaud phenomenonHP:0030880
  • Recurrent fracturesHP:0002757
  • Reduced visual acuityHP:0007663
  • RetinopathyHP:0000488
  • Rootless teethHP:0011072

Occasional (29-5%)(3)

  • AcrocyanosisHP:0001063
  • HypercalciuriaHP:0002150
  • Stage 5 chronic kidney diseaseHP:0003774

Very rare (<4-1%)(3)

  • Calcinosis cutisHP:0025520
  • CardiomyopathyHP:0001638
  • Cutis marmorataHP:0000965