Disease (OMIM:271640):
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0430047
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003048
hpo_term: Radial head subluxation
chpo_term: 桡骨头半脱位
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:0001222
hpo_term: Spatulate thumbs
chpo_term: 匙状拇指
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0002822
hpo_term: Hyperplasia of the femoral trochanters
chpo_term: 股骨粗隆增生
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0001547
hpo_term: Abnormal rib cage morphology
chpo_term: 胸廓形态异常
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001027
hpo_term: Soft, doughy skin
chpo_term: 面团样柔性皮肤
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0004233
hpo_term: Advanced ossification of carpal bones
chpo_term: 腕骨骨化过早
id: HP:0008818
hpo_term: Large iliac wing
chpo_term: 大髂骨翼
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010575
hpo_term: Dysplasia of the femoral head
chpo_term: 股骨头发育不良
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000904
hpo_term: Flaring of rib cage
chpo_term: 喇叭状胸廓
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0008824
hpo_term: Hypoplastic iliac body
chpo_term: 髂骨体发育不良
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲