Disease (OMIM:130070):
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
Ehlers-Danlos syndrome, spondylodysplastic type, 1

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0007469
hpo_term: Palmoplantar cutis gyrata
chpo_term: 掌跖表皮旋纹
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0011308
hpo_term: Slender toe
chpo_term: 修长趾
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0006243
hpo_term: Phalangeal dislocation
chpo_term: 指（趾）骨错位
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平