Disease (OMIM:107480):
TOWNES-BROCKS SYNDROME 1
Townes-Brocks syndrome 1

Associated phenotypes (HPO):
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0010331
hpo_term: Aplasia/Hypoplasia of the 3rd toe
chpo_term: 第三趾趾骨发育不良/发育不全
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0009944
hpo_term: Partial duplication of thumb phalanx
chpo_term: 拇指指骨部分重复
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0004453
hpo_term: Overfolding of the superior helices
chpo_term: 耳轮上部过度卷曲
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0010711
hpo_term: 1-2 toe syndactyly
chpo_term: 第一、二脚趾并趾
id: HP:0010481
hpo_term: Urethral valve
chpo_term: 尿道瓣膜
id: HP:0100015
hpo_term: Stahl ear
chpo_term: Stahl耳畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0009779
hpo_term: 3-4 toe syndactyly
chpo_term: 第三、四脚趾并趾
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0030676
hpo_term: Satyr ear
chpo_term: 尖耳轮耳
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0006179
hpo_term: Pseudoepiphyses of second metacarpal
chpo_term: 第二掌骨假骨骺
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0001440
hpo_term: Metatarsal synostosis
chpo_term: 跖骨骨性融合
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
id: HP:0004792
hpo_term: Rectoperineal fistula
chpo_term: 直肠会阴瘘
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
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:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁