Disease (OMIM:300882):
CORNELIA DE LANGE SYNDROME 5
Cornelia de Lange syndrome 5

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
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:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
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:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾