Disease (ORPHA:904):
Monosomy 7q11.23
Williams-Beuren syndrome
Deletion 7q11.23
Williams syndrome

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000025
hpo_term: Functional abnormality of male internal genitalia
chpo_term: 男性内生殖器功能异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001136
hpo_term: Retinal arteriolar tortuosity
chpo_term: 视网膜小动脉迂曲
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001361
hpo_term: Nystagmus-induced head nodding
chpo_term: 眼球震颤诱导点头运动
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001969
hpo_term: Abnormal tubulointerstitial morphology
chpo_term: 肾小管间质形态异常
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002253
hpo_term: Colonic diverticula
chpo_term: 结肠憩室
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0004306
hpo_term: Abnormal endocardium morphology
chpo_term: 心内膜形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004381
hpo_term: Supravalvular aortic stenosis
chpo_term: 主动脉瓣上狭窄
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0004428
hpo_term: Elfin facies
chpo_term: 小精灵脸
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0005113
hpo_term: Aortic arch aneurysm
chpo_term: 主动脉弓部瘤
id: HP:0005344
hpo_term: Abnormal carotid artery morphology
chpo_term: 颈动脉形态异常
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007372
hpo_term: Atrophy/Degeneration involving the corticospinal tracts
chpo_term: 累及皮质脊髓束的萎缩/退化
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008053
hpo_term: Aplasia/Hypoplasia of the iris
chpo_term: 虹膜发育缺陷/不全
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0010662
hpo_term: Abnormality of the diencephalon
chpo_term: 间脑异常
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0010780
hpo_term: Hyperacusis
chpo_term: 听觉过敏
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0100025
hpo_term: Overfriendliness
chpo_term: 过度友善
id: HP:0100240
hpo_term: Synostosis of joints
chpo_term: 关节骨性联接
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜