Disease (OMIM:612474):
Chromosome 1q21.1 deletion syndrome, 1.35-mb
CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

Associated phenotypes (HPO):
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:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
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:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0025493
hpo_term: Palmoplantar erythema
chpo_term: 掌跖红斑
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
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:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
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:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
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:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0040053
hpo_term: Long lower eyelashes
chpo_term: 长下睫
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
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:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0009942
hpo_term: Duplication of thumb phalanx
chpo_term: 拇指重复
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:0000311
hpo_term: Round face
chpo_term: 圆脸
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:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
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:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0010112
hpo_term: Mesoaxial foot polydactyly
chpo_term: 足中轴型多趾
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0025313
hpo_term: Exophoria
chpo_term: 外隐斜
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002292
hpo_term: Frontal balding
chpo_term: 前额秃发
id: HP:0010698
hpo_term: Nuclear pulverulent cataract
chpo_term: 核性粉尘状白内障
id: HP:0010695
hpo_term: Sutural cataract
chpo_term: 缝性白内障
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:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出