← 返回搜尋

Muckle-Wells syndrome

ORPHA:575 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(11)

  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Broad footHP:0001769
  • ConjunctivitisHP:0000509
  • Cranial nerve paralysisHP:0006824
  • EpiscleritisHP:0100534
  • HepatomegalyHP:0002240
  • Progressive sensorineural hearing impairmentHP:0000408
  • Skin rashHP:0000988
  • SplenomegalyHP:0001744
  • UveitisHP:0000554

Frequent (79-30%)(7)

  • Abdominal painHP:0002027
  • Abnormality of metabolism/homeostasisHP:0001939
  • Elevated erythrocyte sedimentation rateHP:0003565
  • NephropathyHP:0000112
  • Nephrotic syndromeHP:0000100
  • Renal amyloidosisHP:0001917
  • UrticariaHP:0001025

Occasional (29-5%)(19)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the noseHP:0000366
  • Abnormality of the voiceHP:0001608
  • AnemiaHP:0001903
  • Camptodactyly of fingerHP:0100490
  • Delayed pubertyHP:0000823
  • FeverHP:0001945
  • GlaucomaHP:0000501
  • Hernia of the abdominal wallHP:0004299
  • IchthyosisHP:0008064
  • MacrocephalyHP:0000256
  • MyalgiaHP:0003326
  • Optic atrophyHP:0000648
  • Pes cavusHP:0001761
  • Recurrent aphthous stomatitisHP:0011107
  • Restrictive ventilatory defectHP:0002091
  • Short statureHP:0004322
  • VasculitisHP:0002633