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Hermansky-Pudlak syndrome

ORPHA:79430 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(7)

  • Abnormal bleedingHP:0001892
  • Decreased total neutrophil countHP:0001875
  • Hypopigmentation of the skinHP:0001010
  • ImmunodeficiencyHP:0002721
  • Iris hypopigmentationHP:0007730
  • NystagmusHP:0000639
  • Partial albinismHP:0007443

Frequent (79-30%)(15)

  • Abnormal optic nerve morphologyHP:0000587
  • Abnormality of visual evoked potentialsHP:0000649
  • AmblyopiaHP:0000646
  • AstigmatismHP:0000483
  • Bruising susceptibilityHP:0000978
  • CataractHP:0000518
  • EpistaxisHP:0000421
  • Hypopigmentation of hairHP:0005599
  • MenometrorrhagiaHP:0400008
  • MyopiaHP:0000545
  • Ocular albinismHP:0001107
  • PhotophobiaHP:0000613
  • Pulmonary fibrosisHP:0002206
  • Renal insufficiencyHP:0000083
  • StrabismusHP:0000486

Occasional (29-5%)(17)

  • Abdominal painHP:0002027
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of thrombocytesHP:0001872
  • AnorexiaHP:0002039
  • Basal cell carcinomaHP:0002671
  • CardiomyopathyHP:0001638
  • DyspneaHP:0002094
  • FatigueHP:0012378
  • Gastrointestinal hemorrhageHP:0002239
  • HyperkeratosisHP:0000962
  • Long eyelashesHP:0000527
  • MalabsorptionHP:0002024
  • Melanocytic nevusHP:0000995
  • Squamous cell carcinoma of the skinHP:0006739
  • Thickened skinHP:0001072
  • Visual impairmentHP:0000505
  • Weight lossHP:0001824