TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:101082):
CMT1B
Charcot-Marie-Tooth disease type 1B

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003469
hpo_term: Peripheral dysmyelination
chpo_term: 外周神经髓鞘化障碍
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
Disease (ORPHA:353):
Limb-girdle muscular dystrophy type 2C
LGMD type 2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD2C
LGMD due to gamma-sarcoglycan deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0003730
hpo_term: EMG: myotonic runs
chpo_term: 强直型肌电图波
id: HP:0004311
hpo_term: Abnormal macrophage morphology
chpo_term: 巨噬细胞形态异常
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0030007
hpo_term: EMG: positive sharp waves
chpo_term: 肌电图: 正锐波
id: HP:0100284
hpo_term: EMG: myotonic discharges
chpo_term: 肌电图:肌强直性放电
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
Disease (ORPHA:648919):
Idiopathic catatonic syndrome
Isolated catatonic syndrome
Idiopathic catatonia
Isolated catatonia

Associated phenotypes (HPO):
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002533
hpo_term: Abnormal posturing
chpo_term: 姿势异常
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0410291
hpo_term: Negativism
chpo_term: 违抝
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0025401
hpo_term: Staring gaze
chpo_term: 凝视
id: HP:0030903
hpo_term: Grasp reflex
chpo_term: 抓握反射/握持反射
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
Disease (ORPHA:356):
Gerstmann-Straussler-Scheinker syndrome
Subacute spongiform encephalopathy, Gerstmann-Straussler type

Associated phenotypes (HPO):
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0011730
hpo_term: Abnormal central sensory function
chpo_term: 中枢感觉功能异常
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
Disease (ORPHA:199354):
Maeda syndrome
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0002634
hpo_term: Arteriosclerosis
chpo_term: 动脉硬化
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0008480
hpo_term: Cervical spondylosis
chpo_term: 颈椎病
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0030892
hpo_term: Deep cerebral white matter hyperintensities
chpo_term: 深部脑白质高信号
id: HP:0040161
hpo_term: Localized osteoporosis
chpo_term: 局部骨质疏松
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012671
hpo_term: Abulia
chpo_term: 意志力丧失
id: HP:0012672
hpo_term: Akinetic mutism
chpo_term: 运动不能缄默症
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003657
hpo_term: Granular osmiophilic deposits (GROD) in cells
chpo_term: 胞内嗜锇颗粒沉积
Disease (ORPHA:35878):
Hyperinsulinism-hyperammonemia syndrome
HI/HA syndrome

Associated phenotypes (HPO):
id: HP:0008162
hpo_term: Asymptomatic hyperammonemia
chpo_term: 无症状高氨血症
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008283
hpo_term: Fasting hyperinsulinemia
chpo_term: 空腹高胰岛素血症
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
Disease (ORPHA:101076):
X-linked Charcot-Marie-Tooth disease type 2
CMTX2

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
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:0011399
hpo_term: Tibialis anterior muscle atrophy
chpo_term: 胫骨前肌萎缩
id: HP:0011727
hpo_term: Peroneal muscle weakness
chpo_term: 腓骨肌无力
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0031866
hpo_term: Clasp-knife sign
chpo_term: 折刀征
Disease (ORPHA:101077):
CMTX3
X-linked Charcot-Marie-Tooth disease type 3
CMT3X

Associated phenotypes (HPO):
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
Disease (ORPHA:101078):
X-linked Charcot-Marie-Tooth disease type 4
Cowchock syndrome
CMTX4
CMT4X

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
Disease (ORPHA:199351):
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
Adult-onset dystonia-parkinsonism

Associated phenotypes (HPO):
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000658
hpo_term: Eyelid apraxia
chpo_term: 眼睑失用症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0007058
hpo_term: Generalized cerebral atrophy/hypoplasia
chpo_term: 广泛性脑萎缩/发育不全
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0025262
hpo_term: Stiff hip
chpo_term: 髋部僵硬
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0012675
hpo_term: Iron accumulation in brain
chpo_term: 脑内铁累积
Disease (ORPHA:351):
Neuraminidase deficiency with beta-galactosidase deficiency
Galactosialidosis
Goldberg syndrome

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
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:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
Disease (ORPHA:46532):
HPFH-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Associated phenotypes (HPO):
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
Disease (ORPHA:623615):
ALE
Autoimmune limbic encephalitis

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0010843
hpo_term: EEG with focal slow activity
chpo_term: 脑电图局灶性慢活动
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:0033687
hpo_term: Short term memory impairment
chpo_term: 短时记忆障碍
id: HP:5000016
hpo_term: Anti-Hu antibody positivity
chpo_term: 抗Hu抗体阳性
id: HP:5000020
hpo_term: Anti-LGI1 antibody
chpo_term: 抗LGI1抗体
id: HP:6000397
id: HP:6001115
id: HP:0010532
hpo_term: Paroxysmal vertigo
chpo_term: 发作性眩晕
id: HP:5000005
hpo_term: Anti-CASPR2
chpo_term: 抗CASPR2
id: HP:5000010
hpo_term: Anti-GABA(B)R antibody
chpo_term: 抗GABA(B)R抗体
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0100836
hpo_term: Malignant neoplasm of the central nervous system
chpo_term: 中枢神经系统恶性肿瘤
Disease (ORPHA:141132):
OAV spectrum
Oculoauriculovertebral spectrum
Oculo-auriculo-vertebral spectrum
Goldenhar syndrome

Associated phenotypes (HPO):
id: HP:0033792
hpo_term: Cross bite
chpo_term: 反牙合
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0001140
hpo_term: Limbal dermoid
chpo_term: 角膜缘皮样囊肿
id: HP:0011332
hpo_term: Hemifacial hypoplasia
chpo_term: 面肌发育不全
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009117
hpo_term: Aplasia/Hypoplasia of the maxilla
chpo_term: 上颌骨发育不良/发育不全
id: HP:0009118
hpo_term: Aplasia/Hypoplasia of the mandible
chpo_term: 下颌骨发育不良/发育不全
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
Disease (ORPHA:101075):
CMTX1
X-linked Charcot-Marie-Tooth disease type 1
CMT1X

Associated phenotypes (HPO):
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
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:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0040129
hpo_term: Abnormal nerve conduction velocity
chpo_term: 神经传导速度异常
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
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:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
Disease (ORPHA:347):
Frasier syndrome

Associated phenotypes (HPO):
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008723
hpo_term: Gonadal dysgenesis with female appearance, male
chpo_term: 男性性腺发育不全，女性外表
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
Disease (ORPHA:346):
Quinquaud folliculitis decalvans

Associated phenotypes (HPO):
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱