Disease (ORPHA:90321):
Cockayne syndrome type 1
Cockayne syndrome type I

Associated phenotypes (HPO):
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
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:0000633
hpo_term: Decreased lacrimation
chpo_term: 泪液分泌减少
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000680
hpo_term: Delayed eruption of primary teeth
chpo_term: 乳牙萌出延迟
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
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:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006313
hpo_term: Widely spaced primary teeth
chpo_term: 乳牙间隙增宽
id: HP:0006334
hpo_term: Hypoplasia of the primary teeth
chpo_term: 乳牙发育不全
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004463
hpo_term: Absent brainstem auditory responses
chpo_term: 脑干听觉反应消失
id: HP:0008366
hpo_term: Foot joint contracture
chpo_term: 足关节挛缩
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常