Disease (OMIM:304120):
Otopalatodigital syndrome, type II
OTOPALATODIGITAL SYNDROME, TYPE II

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009467
hpo_term: Radial deviation of the 2nd finger
chpo_term: 第二指桡侧偏斜
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
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:0003304
hpo_term: Spondylolysis
chpo_term: 峡部裂
id: HP:0001782
hpo_term: Bulbous tips of toes
chpo_term: 球茎状趾尖
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010559
hpo_term: Vertical clivus
chpo_term: 斜坡垂直
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0011645
hpo_term: Dilatation of the sinus of Valsalva
chpo_term: 主动脉窦部扩张
id: HP:0006381
hpo_term: Rudimentary fibula
chpo_term: 腓骨发育不良
id: HP:0008087
hpo_term: Nonossified fifth metatarsal
chpo_term: 第五跖骨未骨化
id: HP:0100857
hpo_term: Flat sella turcica
chpo_term: 蝶鞍扁平
id: HP:0010560
hpo_term: Undulate clavicles
chpo_term: 波浪状锁骨
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:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0002694
hpo_term: Sclerosis of skull base
chpo_term: 颅底硬化
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
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:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0006160
hpo_term: Irregular metacarpals
chpo_term: 不规则掌骨
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼