← 返回搜尋

Isolated osteopoikilosis

ORPHA:166119 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(3)

  • Abnormal bone ossificationHP:0011849
  • Abnormality of limb boneHP:0040068
  • Increased bone mineral densityHP:0011001

Frequent (79-30%)(6)

  • Abnormal long bone morphologyHP:0011314
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormal pelvis bone ossificationHP:0009106
  • HyperostosisHP:0100774
  • Sclerosis of foot boneHP:0100925
  • Sclerotic foci in hand bonesHP:0004289

Occasional (29-5%)(15)

  • Abnormal femur morphologyHP:0002823
  • Abnormally ossified vertebraeHP:0100569
  • Addictive alcohol useHP:0030955
  • Ankle painHP:0030840
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • DacryocystitisHP:0000620
  • Episodic painHP:0032148
  • Hip painHP:0030838
  • Joint stiffnessHP:0001387
  • Limitation of joint mobilityHP:0001376
  • Neurodevelopmental delayHP:0012758
  • Sclerotic foci within carpal bonesHP:0004240
  • Sclerotic scapulaeHP:0001474
  • Tarsal sclerosisHP:0031051

Very rare (<4-1%)(9)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the endocrine systemHP:0000818
  • Abnormality of the kidneyHP:0000077
  • AutoimmunityHP:0002960
  • Cleft palateHP:0000175
  • Discoid lupus rashHP:0007417
  • KeloidsHP:0010562
  • SclerodermaHP:0100324
  • SyndactylyHP:0001159