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Blue diaper syndrome

ORPHA:94086 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(1)

  • Blue urineHP:0040317

Frequent (79-30%)(4)

  • DiarrheaHP:0002014
  • HypercalcemiaHP:0003072
  • Increased body weightHP:0004324
  • NephrocalcinosisHP:0000121

Occasional (29-5%)(7)

  • Decreased circulating T4 concentrationHP:0031507
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • HyperphosphatemiaHP:0002905
  • Increased proinsulin:insulin ratioHP:0031883
  • Metabolic acidosisHP:0001942
  • Recurrent hypoglycemiaHP:0001988