Disease (ORPHA:93284):
Spondyloepiphyseal dysplasia tarda

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
id: HP:0003051
hpo_term: Enlarged metaphyses
chpo_term: 干骺端膨大
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
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:0004594
hpo_term: Hump-shaped mound of bone in central and posterior portions of vertebral endplate
chpo_term: 椎体终板中后部骨质驼峰状凸起
id: HP:0005775
hpo_term: Multiple skeletal anomalies
chpo_term: 多发性骨骼异常
id: HP:0012771
hpo_term: Increased arm span
chpo_term: 臂展增加
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002763
hpo_term: Abnormal cartilage morphology
chpo_term: 软骨形态异常
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003855
hpo_term: Spurred metaphyses of the upper limbs
chpo_term: 上肢干骺端骨刺
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0010656
hpo_term: Abnormal epiphyseal ossification
chpo_term: 骨骺骨化异常
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0100712
hpo_term: Abnormal lumbar spine morphology
chpo_term: 腰椎形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003832
hpo_term: Abnormality of the tibial plateaux
chpo_term: 胫骨平台异常
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0004637
hpo_term: Decreased cervical spine mobility
chpo_term: 颈椎活动度下降
id: HP:0006233
hpo_term: Osteoarthritis of the distal interphalangeal joint
chpo_term: 远端指（趾）间关节骨性关节炎
id: HP:0006248
hpo_term: Limited wrist movement
chpo_term: 腕部运动受限
id: HP:0006467
hpo_term: Limited shoulder movement
chpo_term: 肩部活动受限
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0010231
hpo_term: Enlarged epiphyses of the phalanges of the hand
chpo_term: 指骨骨骺膨大
id: HP:0010575
hpo_term: Dysplasia of the femoral head
chpo_term: 股骨头发育不良
id: HP:0025131
hpo_term: Finger swelling
chpo_term: 手指肿胀
id: HP:0025263
hpo_term: Stiff knee
chpo_term: 膝部僵硬
id: HP:0040161
hpo_term: Localized osteoporosis
chpo_term: 局部骨质疏松
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎