Disease (OMIM:616331):
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Robinow syndrome, autosomal dominant 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005450
hpo_term: Calvarial osteosclerosis
chpo_term: 颅骨硬化
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0010292
hpo_term: Absent uvula
chpo_term: 悬雍垂缺失
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0009944
hpo_term: Partial duplication of thumb phalanx
chpo_term: 拇指指骨部分重复
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
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:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000207
hpo_term: Triangular mouth
chpo_term: 三角嘴
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000060
hpo_term: Clitoral hypoplasia
chpo_term: 阴蒂发育不良
id: HP:0003093
hpo_term: Limited hip extension
chpo_term: 髋关节伸展受限
id: HP:0011994
hpo_term: Abnormal atrial septum morphology
chpo_term: 房间隔形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
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:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0009999
hpo_term: Partial duplication of the phalanx of hand
chpo_term: 指骨部分重复
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌