Disease (ORPHA:101085):
Charcot-Marie-Tooth disease type 1F
CMT1F

Associated phenotypes (HPO):
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
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:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0011402
hpo_term: Demyelinating sensory neuropathy
chpo_term: 脱髓鞘性感觉神经病
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0004463
hpo_term: Absent brainstem auditory responses
chpo_term: 脑干听觉反应消失
id: HP:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0007327
hpo_term: Mixed demyelinating and axonal polyneuropathy
chpo_term: 脱髓鞘和轴突混合型多发性周围神经病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0010873
hpo_term: Cervical spinal cord atrophy
chpo_term: 颈髓萎缩
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008956
hpo_term: Proximal lower limb amyotrophy
chpo_term: 下肢近端肌肉萎缩
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能