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Alpha-heavy chain disease

ORPHA:100025 · Clinical subtype · Subtype of disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(3)

  • Abnormal small intestine morphologyHP:0002244
  • DysgammaglobulinemiaHP:0002961
  • MalabsorptionHP:0002024

Frequent (79-30%)(4)

  • Abdominal painHP:0002027
  • AnemiaHP:0001903
  • HypocalcemiaHP:0002901
  • ImmunodeficiencyHP:0002721

Occasional (29-5%)(8)

  • AlopeciaHP:0001596
  • AscitesHP:0001541
  • FeverHP:0001945
  • Growth delayHP:0001510
  • HepatomegalyHP:0002240
  • LymphadenopathyHP:0002716
  • LymphomaHP:0002665
  • SplenomegalyHP:0001744