Disease (OMIM:620663):
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE

Associated phenotypes (HPO):
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0040022
hpo_term: Clinodactyly of the 2nd finger
chpo_term: 第二指弯曲
id: HP:0010760
hpo_term: Absent toe
chpo_term: 脚趾缺失
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0040024
hpo_term: Clinodactyly of the 3rd finger
chpo_term: 第三指弯曲
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
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:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
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:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
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:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
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:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0003184
hpo_term: Decreased hip abduction
chpo_term: 髋关节外展减小
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌