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Multicentric osteolysis-nodulosis-arthropathy spectrum

ORPHA:371428 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(12)

  • Abnormal facial shapeHP:0001999
  • Abnormal hand morphologyHP:0005922
  • ArthritisHP:0001369
  • ArthropathyHP:0003040
  • Carpal osteolysisHP:0001495
  • HirsutismHP:0001007
  • OsteolysisHP:0002797
  • Osteolysis involving bones of the lower limbsHP:0009139
  • Osteolysis involving bones of the upper limbsHP:0045039
  • Osteolysis involving tarsal bonesHP:0006234
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939

Frequent (79-30%)(8)

  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the cardiovascular systemHP:0001626
  • BrachycephalyHP:0000248
  • Broad clavicleHP:0000916
  • Broad metacarpalsHP:0001230
  • Localized skin lesionHP:0011355
  • Sclerotic cranial suturesHP:0005441
  • Subcutaneous noduleHP:0001482

Occasional (29-5%)(19)

  • Abnormality of the orbital regionHP:0000315
  • Atrial septal defectHP:0001631
  • Atrioventricular blockHP:0001678
  • Bicuspid aortic valveHP:0001647
  • Coarctation of aortaHP:0001680
  • Double outlet right ventricleHP:0001719
  • HypertensionHP:0000822
  • Increased susceptibility to fracturesHP:0002659
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • Mitral valve prolapseHP:0001634
  • Nodular goiterHP:0005994
  • OmphaloceleHP:0001539
  • PapilledemaHP:0001085
  • Polycystic ovariesHP:0000147
  • Premature thelarcheHP:0010314
  • PterygiumHP:0001059
  • Type I diabetes mellitusHP:0100651
  • Ventricular septal defectHP:0001629