Disease (OMIM:271665):
Spondylometaepiphyseal dysplasia, short Limb-Hand type
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE

Associated phenotypes (HPO):
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
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:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:0003320
hpo_term: C1-C2 subluxation
chpo_term: C1-C2半脱位
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005462
hpo_term: Calcification of falx cerebri
chpo_term: 大脑镰钙化
id: HP:0003085
hpo_term: Long fibula
chpo_term: 长腓骨
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
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:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009931
hpo_term: Enlarged naris
chpo_term: 大鼻孔
id: HP:0000922
hpo_term: Posterior rib cupping
chpo_term: 杯状后肋
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0002787
hpo_term: Tracheal calcification
chpo_term: 气管钙化
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0100593
hpo_term: Calcification of cartilage
chpo_term: 软骨钙化
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0009164
hpo_term: Abnormal calcification of the carpal bones
chpo_term: 腕骨钙化异常
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:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
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:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0000907
hpo_term: Anterior rib cupping
chpo_term: 杯状前肋
id: HP:0009875
hpo_term: Triangular shaped distal phalanges of the hand
chpo_term: 三角形末节指骨
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0006600
hpo_term: Progressive calcification of costochondral cartilage
chpo_term: 进行性肋软骨钙化
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌