Disease (OMIM:601808):
CHROMOSOME 18q DELETION SYNDROME
Chromosome 18q deletion syndrome

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0005134
hpo_term: Absence of the pulmonary valve
chpo_term: 肺动脉瓣缺失
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0005176
hpo_term: Dysplastic aortic valve
chpo_term: 主动脉瓣发育不良
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
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:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004433
hpo_term: Secretory IgA deficiency
chpo_term: 分泌型IgA缺乏症
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005164
hpo_term: Dysplastic pulmonary valve
chpo_term: 肺动脉瓣发育不良
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突