Disease (OMIM:180849):
Rubinstein-Taybi syndrome 1
RUBINSTEIN-TAYBI SYNDROME 1

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0005895
hpo_term: Radial deviation of thumb terminal phalanx
chpo_term: 拇指末节指骨径向偏移
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
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:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0010314
hpo_term: Premature thelarche
chpo_term: 乳房早熟
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002700
hpo_term: Large foramen magnum
chpo_term: 大枕骨大孔
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0031207
hpo_term: Hepatic hemangioma
chpo_term: 肝血管瘤
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0011087
hpo_term: Talon cusp
chpo_term: 副牙尖
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001042
hpo_term: High axial triradius
chpo_term: 高位轴三角掌纹
id: HP:0010775
hpo_term: Vascular ring
chpo_term: 血管环
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0008107
hpo_term: Plantar crease between first and second toes
chpo_term: 第一、二脚趾之间足底皱褶
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0009715
hpo_term: Papillary cystadenoma of the epididymis
chpo_term: 附睾乳头状囊腺瘤
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011335
hpo_term: Frontal hirsutism
chpo_term: 前额多毛
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0002219
hpo_term: Facial hypertrichosis
chpo_term: 面部多毛症（先天性）
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0020206
hpo_term: Simple ear
chpo_term: 简平耳
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0034227
hpo_term: Aortic isthmus hypoplasia
chpo_term: 主动脉峡部发育不全
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
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:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0010066
hpo_term: Duplication of phalanx of hallux
chpo_term: 拇趾骨重复
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂