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Cystinuria

ORPHA:214 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(4)

  • Abnormality of amino acid metabolismHP:0004337
  • CystinuriaHP:0003131
  • HematuriaHP:0000790
  • Kidney stoneHP:0000787

Frequent (79-30%)(8)

  • Abnormal urinary odorHP:0012088
  • Cystine crystalluriaHP:0033067
  • Flank painHP:0030157
  • HypertensionHP:0000822
  • HyperuricemiaHP:0002149
  • HypocitraturiaHP:0012405
  • Nausea and vomitingHP:0002017
  • Renal insufficiencyHP:0000083

Occasional (29-5%)(3)

  • Echogenic fetal colonHP:6000916
  • HypercalciuriaHP:0002150
  • HyperuricosuriaHP:0003149