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Spondyloepimetaphyseal dysplasia, Handigodu type
ORPHA:99642 · Disease · Disorder
HPO 表現型（共 29 項）
Very frequent (99-80%)(3)
- Arthralgia of the hipHP:0003365
- Hip osteoarthritisHP:0008843
- Limited hip movementHP:0008800
Frequent (79-30%)(13)
- Abnormality of the skeletal systemHP:0000924
- Abnormality of the vertebral columnHP:0000925
- Difficulty runningHP:0009046
- Disproportionate short-trunk short statureHP:0003521
- Dysplasia of the femoral headHP:0010575
- Gait disturbanceHP:0001288
- Hip contractureHP:0003273
- Hip subluxationHP:0030043
- Hump-shaped mound of bone in central and posterior portions of vertebral endplateHP:0004594
- Lumbar hyperlordosisHP:0002938
- PlatyspondylyHP:0000926
- Protrusio acetabuliHP:0003179
- Short statureHP:0004322
Occasional (29-5%)(13)
- Abnormal intervertebral disk morphologyHP:0005108
- Abnormality of the handHP:0001155
- Abnormality of the kneeHP:0002815
- Broad femoral neckHP:0006429
- Broad radial metaphysisHP:0004026
- Coxa varaHP:0002812
- Flattened femoral headHP:0008812
- Hip dysplasiaHP:0001385
- Knee painHP:0030839
- Severe short statureHP:0003510
- Short femoral neckHP:0100864
- Waddling gaitHP:0002515
- Wide distal femoral metaphysisHP:0006387