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Cystic fibrosis

ORPHA:586 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(7)

  • Absent vas deferensHP:0012873
  • Airway obstructionHP:0006536
  • BronchiectasisHP:0002110
  • Elevated sweat chlorideHP:0012236
  • Exocrine pancreatic insufficiencyHP:0001738
  • MalabsorptionHP:0002024
  • Recurrent respiratory infectionsHP:0002205

Frequent (79-30%)(2)

  • Failure to thriveHP:0001508
  • Male infertilityHP:0003251

Occasional (29-5%)(17)

  • Abnormality of the liverHP:0001392
  • AnxietyHP:0000739
  • AsthmaHP:0002099
  • Decreased body mass indexHP:0045082
  • DepressionHP:0000716
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Gastroesophageal refluxHP:0002020
  • Meconium ileusHP:0004401
  • OsteopeniaHP:0000938
  • Rectal prolapseHP:0002035
  • Recurrent Aspergillus infectionHP:0002724
  • Recurrent Haemophilus influenzae infectionHP:0005376
  • Recurrent lower respiratory tract infectionsHP:0002783
  • Recurrent Staphylococcus aureus infectionHP:0002726
  • Reduced forced expiratory volume in one secondHP:0032342
  • SinusitisHP:0000246
  • SteatorrheaHP:0002570

Very rare (<4-1%)(9)

  • CirrhosisHP:0001394
  • Hearing impairmentHP:0000365
  • HemoptysisHP:0002105
  • Kidney stoneHP:0000787
  • Nasal polyposisHP:0100582
  • Nontuberculous mycobacterial pulmonary infectionHP:0032261
  • OsteoporosisHP:0000939
  • PneumothoraxHP:0002107
  • Recurrent Burkholderia cepacia infectionHP:0002842