Disease (ORPHA:191):
Cockayne syndrome

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0004934
hpo_term: Vascular calcification
chpo_term: 血管钙化
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0006483
hpo_term: Abnormal number of teeth
chpo_term: 牙齿数目异常
id: HP:0008043
hpo_term: Retinal arteriolar constriction
chpo_term: 视网膜小动脉收缩
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011527
hpo_term: Lentiglobus
chpo_term: 球形晶状体
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001757
hpo_term: High-frequency sensorineural hearing impairment
chpo_term: 高频感音神经性听力障碍
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002461
hpo_term: Dense calcifications in the cerebellar dentate nucleus
chpo_term: 小脑齿状核致密钙化
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002545
hpo_term: Patchy demyelination of subcortical white matter
chpo_term: 皮层下白质片状脱髓鞘
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0005781
hpo_term: Contractures of the large joints
chpo_term: 大关节挛缩
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0007346
hpo_term: Subcortical white matter calcifications
chpo_term: 皮质下白质钙化
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000585
hpo_term: Band keratopathy
chpo_term: 带状角膜病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000633
hpo_term: Decreased lacrimation
chpo_term: 泪液分泌减少
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000680
hpo_term: Delayed eruption of primary teeth
chpo_term: 乳牙萌出延迟
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高