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Alkaptonuria

ORPHA:56 · Disease · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(16)

  • Abnormal skin pigmentationHP:0001000
  • Abnormality of visionHP:0000504
  • AminoaciduriaHP:0003355
  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Calcification of cartilageHP:0100593
  • Coronary artery calcificationHP:0001717
  • Elevated urinary homogentisic acidHP:0033704
  • Hearing abnormalityHP:0000364
  • Intervertebral disk calcificationHP:0005645
  • Irregular hyperpigmentationHP:0007400
  • Joint dislocationHP:0001373
  • Joint stiffnessHP:0001387
  • Joint swellingHP:0001386
  • OchronosisHP:0030764
  • OsteoarthritisHP:0002758

Frequent (79-30%)(15)

  • Abnormal heart valve morphologyHP:0001654
  • Abnormal nail morphologyHP:0001597
  • Abnormality of the noseHP:0000366
  • Aortic valve calcificationHP:0004380
  • Aortic valve stenosisHP:0001650
  • Back painHP:0003418
  • Cartilage destructionHP:0100773
  • Dark urineHP:0040319
  • Kidney stoneHP:0000787
  • Mitral valve calcificationHP:0004382
  • Oil-drop brown pigmentation of the corneal limbusHP:6000027
  • Pigmentation of the scleraHP:0007832
  • ProstatitisHP:0000024
  • Tendon ruptureHP:0100550
  • Thickened Achilles tendonHP:0004690

Occasional (29-5%)(19)

  • Amyloid depositionHP:0011034
  • Aortic aneurysmHP:0004942
  • AtherosclerosisHP:0002621
  • Black pigment gallstonesHP:0011982
  • Corneal astigmatismHP:0025612
  • Dark cerumenHP:6000025
  • GlaucomaHP:0000501
  • Hemolytic anemiaHP:0001878
  • HypertensionHP:0000822
  • HypothyroidismHP:0000821
  • Increased susceptibility to fracturesHP:0002659
  • MethemoglobinemiaHP:0012119
  • Mitral regurgitationHP:0001653
  • Mitral stenosisHP:0001718
  • Myocardial infarctionHP:0001658
  • Ocular hypertensionHP:0007906
  • Prostatic calculusHP:0034882
  • Reduced bone mineral densityHP:0004349
  • ScoliosisHP:0002650