Disease (ORPHA:93315):
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type

Associated phenotypes (HPO):
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0003908
hpo_term: Corner fracture of metaphysis
chpo_term: 干骺端角骨折
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0004625
hpo_term: Biconvex vertebral bodies
chpo_term: 双凸椎体
id: HP:0008417
hpo_term: Vertebral hypoplasia
chpo_term: 椎体发育不全
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
id: HP:0009896
hpo_term: Abnormal antitragus morphology
chpo_term: 对耳屏形态异常
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0008440
hpo_term: C1-C2 vertebral abnormality
chpo_term: C1-C2寰枢椎椎体异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0031427
hpo_term: Abnormal circulating osteocalcin level
chpo_term: 循环骨钙素水平异常
id: HP:0032208
hpo_term: Increased urinary type 1 collagen N-terminal telopeptide level
chpo_term: 尿1型胶原蛋白N端端肽水平升高