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Multiple osteochondromas

ORPHA:321 · Disease · Disorder

HPO 表現型(共 56 項)

Obligate (100%)(1)

  • OsteochondromaHP:0030431

Frequent (79-30%)(10)

  • Abnormal bone structureHP:0003330
  • Abnormal cartilage morphologyHP:0002763
  • Abnormal femur morphologyHP:0002823
  • Abnormal lower limb bone morphologyHP:0040069
  • Abnormality of the kneeHP:0002815
  • Deformed forearm bonesHP:0003959
  • Functional motor deficitHP:0004302
  • Limitation of joint mobilityHP:0001376
  • PainHP:0012531
  • Short statureHP:0004322

Occasional (29-5%)(24)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal hand morphologyHP:0005922
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal tibia morphologyHP:0002992
  • ArthritisHP:0001369
  • Asymmetric growthHP:0100555
  • Bowing of the long bonesHP:0006487
  • BursitisHP:0025232
  • Coxa valgaHP:0002673
  • Deformed radiusHP:0003977
  • Femoroacetabular impingementHP:0030883
  • Forearm undergrowthHP:0009821
  • Genu valgumHP:0002857
  • Limb undergrowthHP:0009826
  • Limitation of knee mobilityHP:0010501
  • Limited hip movementHP:0008800
  • Lower limb asymmetryHP:0100559
  • Metaphyseal wideningHP:0003016
  • MyalgiaHP:0003326
  • Short long boneHP:0003026
  • Short lower limbsHP:0006385
  • Short metacarpalHP:0010049
  • Somatic sensory dysfunctionHP:0003474
  • Tendon painHP:0032510

Very rare (<4-1%)(21)

  • Abnormal carpal morphologyHP:0001191
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormality of the tarsal bonesHP:0001850
  • Bone fractureHP:0020110
  • Cervical myelopathyHP:0002318
  • Chest painHP:0100749
  • ChondrosarcomaHP:0006765
  • DysphagiaHP:0002015
  • HemothoraxHP:0012151
  • Intestinal obstructionHP:0005214
  • Neuropathic spinal arthropathyHP:0008443
  • Peripheral nerve compressionHP:0003406
  • PneumothoraxHP:0002107
  • PseudoaneurysmHP:0031625
  • Rib exostosesHP:0000896
  • Scapular exostosesHP:0000918
  • Spinal cord compressionHP:0002176
  • SyringomyeliaHP:0003396
  • Talipes valgusHP:0004684
  • Tethered cordHP:0002144
  • Urinary retentionHP:0000016