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Blau syndrome

ORPHA:90340 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(13)

  • Abnormal inflammatory responseHP:0012647
  • ArthralgiaHP:0002829
  • ErythemaHP:0010783
  • Hyperpigmentation of the skinHP:0000953
  • IridocyclitisHP:0001094
  • Joint swellingHP:0001386
  • KeratitisHP:0000491
  • Limitation of joint mobilityHP:0001376
  • PapuleHP:0200034
  • Polyarticular arthritisHP:0005764
  • Posterior uveitisHP:0012123
  • Skin rashHP:0000988
  • SynovitisHP:0100769

Frequent (79-30%)(8)

  • ArthritisHP:0001369
  • Camptodactyly of fingerHP:0100490
  • CataractHP:0000518
  • Dry skinHP:0000958
  • Erythema nodosumHP:0012219
  • FeverHP:0001945
  • GlaucomaHP:0000501
  • PhotophobiaHP:0000613

Occasional (29-5%)(25)

  • Abnormal choroid morphologyHP:0000610
  • Abnormal cranial nerve morphologyHP:0001291
  • Abnormal optic nerve morphologyHP:0000587
  • Abnormal retinal vascular morphologyHP:0008046
  • Abnormal salivary gland morphologyHP:0010286
  • Abnormality of the liverHP:0001392
  • AnemiaHP:0001903
  • Aortic aneurysmHP:0004942
  • Clear cell renal cell carcinomaHP:0006770
  • DyspneaHP:0002094
  • Facial palsyHP:0010628
  • HypertensionHP:0000822
  • IchthyosisHP:0008064
  • Large vessel vasculitisHP:0005310
  • LymphadenopathyHP:0002716
  • NephropathyHP:0000112
  • PericarditisHP:0001701
  • Pulmonary arterial hypertensionHP:0002092
  • RetinopathyHP:0000488
  • Retrobulbar optic neuritisHP:0100654
  • Skin ulcerHP:0200042
  • SplenomegalyHP:0001744
  • Stage 5 chronic kidney diseaseHP:0003774
  • Visual lossHP:0000572
  • XerostomiaHP:0000217