Disease (ORPHA:909):
Cerebrotendinous xanthomatosis
Sterol 27-hydroxylase deficiency
CTX

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0005109
hpo_term: Abnormality of the Achilles tendon
chpo_term: 跟腱的异常
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010874
hpo_term: Tendon xanthomatosis
chpo_term: 腱黄瘤病
id: HP:0011931
hpo_term: Abnormal cerebellar peduncle morphology
chpo_term: 小脑脚形态异常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0012896
hpo_term: Abnormal motor evoked potentials
chpo_term: 运动诱发电位异常
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100872
hpo_term: Abnormality of the plantar skin of foot
chpo_term: 跖部皮肤异常
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002423
hpo_term: Long-tract signs
chpo_term: 长束征
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0007922
hpo_term: Hypermyelinated retinal nerve fibers
chpo_term: 视网膜神经纤维过度髓化
id: HP:0008516
hpo_term: Abnormality of the vertebral spinous processes
chpo_term: 椎体棘突异常
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0011994
hpo_term: Abnormal atrial septum morphology
chpo_term: 房间隔形态异常
id: HP:0012075
hpo_term: Personality disorder
chpo_term: 人格障碍
id: HP:0012706
hpo_term: Elevated brain choline level by MRS
chpo_term: MRS发现脑胆碱水平升高
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0031589
hpo_term: Suicidal ideation
chpo_term: 自杀意念
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0100321
hpo_term: Abnormal dentate nucleus morphology
chpo_term: 齿状核形态异常
id: HP:0200125
hpo_term: Mitochondrial respiratory chain defects
chpo_term: 线粒体呼吸链缺陷
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0010530
hpo_term: Palatal tremor
chpo_term: 腭肌阵挛