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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