Disease (OMIM:121050):
Contractural arachnodactyly, congenital
CONTRACTURAL ARACHNODACTYLY, CONGENITAL

Associated phenotypes (HPO):
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0008453
hpo_term: Congenital kyphoscoliosis
chpo_term: 先天性脊柱后侧凸畸形
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0009901
hpo_term: Crumpled ear
chpo_term: 皱耳
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0012774
hpo_term: Increased upper to lower segment ratio
chpo_term: 上下身比例增大
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0034671
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0008962
hpo_term: Calf muscle hypoplasia
chpo_term: 小腿肌肉发育不良
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010499
hpo_term: Patellar subluxation
chpo_term: 髌骨半脱位
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视