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SAPHO syndrome

ORPHA:793 · Disease · Disorder

HPO 表現型(共 30 項)

Very frequent (99-80%)(11)

  • Abnormal thorax morphologyHP:0000765
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • Chest painHP:0100749
  • Craniofacial osteosclerosisHP:0005464
  • EnthesitisHP:0100686
  • HyperostosisHP:0100774
  • Neoplasm of the skeletal systemHP:0010622
  • OsteolysisHP:0002797
  • PustuleHP:0200039
  • SynovitisHP:0100769

Frequent (79-30%)(8)

  • Abnormal sacroiliac joint morphologyHP:0100781
  • Abnormality of the vertebral columnHP:0000925
  • AcneHP:0001061
  • ArthritisHP:0001369
  • EdemaHP:0000969
  • OsteomyelitisHP:0002754
  • Palmoplantar pustulosisHP:0100847
  • Psoriasiform dermatitisHP:0003765

Occasional (29-5%)(11)

  • Abdominal painHP:0002027
  • Chronic diarrheaHP:0002028
  • Cranial nerve paralysisHP:0006824
  • Inflammation of the large intestineHP:0002037
  • MalabsorptionHP:0002024
  • Recurrent fracturesHP:0002757
  • Recurrent skin infectionsHP:0001581
  • Skin rashHP:0000988
  • SteatorrheaHP:0002570
  • VasculitisHP:0002633
  • Venous thrombosisHP:0004936