Disease (OMIM:300867):
Kabuki syndrome 2
KABUKI SYNDROME 2

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0032315
hpo_term: Areolar fullness
chpo_term: 乳晕饱满
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000196
hpo_term: Lower lip pit
chpo_term: 下唇凹陷
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0007655
hpo_term: Eversion of lateral third of lower eyelids
chpo_term: 下眼睑外侧三分之一外翻
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌