Disease (OMIM:251450):
Desbuquois dysplasia 1
DESBUQUOIS DYSPLASIA 1

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0010097
hpo_term: Partial duplication of the distal phalanx of the hallux
chpo_term: 拇趾末节指骨部分重复
id: HP:0009467
hpo_term: Radial deviation of the 2nd finger
chpo_term: 第二指桡侧偏斜
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0005067
hpo_term: Proximal fibular overgrowth
chpo_term: 腓骨近端增生
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0008082
hpo_term: Medial deviation of the foot
chpo_term: 脚内侧偏斜
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009774
hpo_term: Triangular shaped phalanges of the hand
chpo_term: 三角形指骨
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0033102
hpo_term: Monkey wrench femoral neck
chpo_term: 扳手样股骨颈
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010068
hpo_term: Broad first metatarsal
chpo_term: 第一跖骨粗大
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
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:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0006439
hpo_term: Radioulnar dislocation
chpo_term: 尺桡关节脱位
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:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0004233
hpo_term: Advanced ossification of carpal bones
chpo_term: 腕骨骨化过早
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
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:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:6000868
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0006243
hpo_term: Phalangeal dislocation
chpo_term: 指（趾）骨错位
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0008108
hpo_term: Advanced tarsal ossification
chpo_term: 跗骨骨化过早