Disease (OMIM:143095):
Spondyloepiphyseal dysplasia with congenital joint dislocations
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0006471
hpo_term: Fixed elbow flexion
chpo_term: 肘关节曲位固定
id: HP:0008450
hpo_term: Narrow vertebral interpedicular distance
chpo_term: 椎弓根间隙变窄
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0009179
hpo_term: Deviation of the 5th finger
chpo_term: 第五指偏斜
id: HP:0006462
hpo_term: Generalized bone demineralization
chpo_term: 广泛性骨矿质密度降低
id: HP:0006067
hpo_term: Multiple carpal ossification centers
chpo_term: 腕骨多骨化中心
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0003834
hpo_term: Shoulder dislocation
chpo_term: 肩关节脱位
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:6000970
id: HP:0003093
hpo_term: Limited hip extension
chpo_term: 髋关节伸展受限
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0004976
hpo_term: Knee dislocation
chpo_term: 膝关节脱位
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003184
hpo_term: Decreased hip abduction
chpo_term: 髋关节外展减小
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚