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Blue rubber bleb nevus syndrome

ORPHA:1059 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(6)

  • Arteriovenous malformationHP:0100026
  • Bone painHP:0002653
  • Cavernous hemangiomaHP:0001048
  • Prolonged bleeding timeHP:0003010
  • Skin rashHP:0000988
  • Visceral angiomatosisHP:0100761

Frequent (79-30%)(5)

  • Abnormality of coagulationHP:0001928
  • Abnormality of the vasculatureHP:0002597
  • Intestinal bleedingHP:0002584
  • Subcutaneous noduleHP:0001482
  • VolvulusHP:0002580

Occasional (29-5%)(2)

  • Gastrointestinal infarctionsHP:0005244
  • Microcytic anemiaHP:0001935