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Hyperimmunoglobulinemia D with periodic fever

ORPHA:343 · Clinical subtype · Subtype of disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(9)

  • Abdominal painHP:0002027
  • ArthralgiaHP:0002829
  • Elevated erythrocyte sedimentation rateHP:0003565
  • Gastrointestinal hemorrhageHP:0002239
  • HepatomegalyHP:0002240
  • Increased circulating IgA concentrationHP:0003261
  • LymphadenopathyHP:0002716
  • MyalgiaHP:0003326
  • Recurrent feverHP:0001954

Frequent (79-30%)(7)

  • ArthritisHP:0001369
  • DiarrheaHP:0002014
  • MigraineHP:0002076
  • PapuleHP:0200034
  • Recurrent aphthous stomatitisHP:0011107
  • UrticariaHP:0001025
  • VasculitisHP:0002633

Occasional (29-5%)(10)

  • AcrocyanosisHP:0001063
  • AtaxiaHP:0001251
  • ErythemaHP:0010783
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intestinal obstructionHP:0005214
  • Limitation of joint mobilityHP:0001376
  • PeritonitisHP:0002586
  • PurpuraHP:0000979
  • SeizureHP:0001250