TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:449285):
Snakebite envenomation

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0002203
hpo_term: Respiratory paralysis
chpo_term: 呼吸肌麻痹
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
Disease (ORPHA:529665):
GPAA1-related biosynthesis defect
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
Disease (ORPHA:449280):
Scedosporiosis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0032255
hpo_term: Opportunistic fungal infection
chpo_term: 机会性真菌感染
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0032162
hpo_term: Unusual skin infection
chpo_term: 非寻常皮肤感染
id: HP:0032262
hpo_term: Pulmonary tuberculosis
chpo_term: 肺结核
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0005059
hpo_term: Arthralgia/arthritis
chpo_term: 关节痛/关节炎
id: HP:0005265
hpo_term: Abnormal jejunum morphology
chpo_term: 空肠形态异常
id: HP:0011450
hpo_term: Unusual CNS infection
chpo_term: 不寻常的中枢神经系统感染
id: HP:0011919
hpo_term: Pleural empyema
chpo_term: 脓胸
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0020101
hpo_term: Invasive fungal infection
chpo_term: 侵袭性真菌感染
id: HP:0031994
hpo_term: Bronchial breath sound
chpo_term: 支气管呼吸音
id: HP:0032159
hpo_term: Fungal meningitis
chpo_term: 真菌性脑膜炎
id: HP:0032176
hpo_term: Apical pulmonary opacity
chpo_term: 肺尖阴影
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
Disease (ORPHA:90117):
HMSNP
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, proximal type

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030179
hpo_term: Abnormal peripheral action potential amplitude
chpo_term: 周围神经动作电位波幅异常
id: HP:0030200
hpo_term: Fatiguable weakness of proximal limb muscles
chpo_term: 近端肢体肌肉疲劳性无力
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0030007
hpo_term: EMG: positive sharp waves
chpo_term: 肌电图: 正锐波
id: HP:0031910
hpo_term: Abnormal cranial nerve physiology
chpo_term: 颅神经生理异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0010827
hpo_term: Abnormality of the seventh cranial nerve
chpo_term: 第七对颅神经异常
id: HP:0011014
hpo_term: Abnormal glucose homeostasis
chpo_term: 葡萄糖内稳态平衡异常
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0410262
hpo_term: Lower cranial nerve dysfunction
chpo_term: 后组颅神经功能障碍
Disease (ORPHA:217377):
Microduplication Xp11.22p11.23 syndrome
Trisomy Xp11.22p11.23
Dup(X)(p11.22p11.23)

Associated phenotypes (HPO):
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
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:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0012557
hpo_term: EEG with centrotemporal focal spike waves
chpo_term: 脑电图伴中央颞区棘波
Disease (ORPHA:33574):
Glutamate-cysteine ligase deficiency
Gamma-glutamylcysteine synthetase deficiency

Associated phenotypes (HPO):
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
Disease (ORPHA:324588):
Familial dyskinesia and facial myokymia
FDFM

Associated phenotypes (HPO):
id: HP:0000317
hpo_term: Facial myokymia
chpo_term: 面肌颤搐
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:90103):
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
CMT-deafness-intellectual disability syndrome
Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers

Associated phenotypes (HPO):
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
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:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0008962
hpo_term: Calf muscle hypoplasia
chpo_term: 小腿肌肉发育不良
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009031
hpo_term: Amyotrophy of ankle musculature
chpo_term: 踝部肌肉萎缩
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0012046
hpo_term: Areflexia of upper limbs
chpo_term: 上肢反射消失
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
Disease (ORPHA:324581):
Benign Samaritan congenital myopathy

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0031139
hpo_term: Frog-leg posture
chpo_term: 蛙足姿势
id: HP:0031237
hpo_term: Internally nucleated skeletal muscle fibers
chpo_term: 骨骼肌纤维中细胞核内聚
Disease (ORPHA:25968):
Self-limited childhood occipital epilepsy
Benign occipital epilepsy

Associated phenotypes (HPO):
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0012011
hpo_term: EEG with occipital focal spike waves
chpo_term: 脑电图，伴枕部局灶棘慢波
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0025518
hpo_term: Visual gaze preference
chpo_term: 视觉凝视偏好
Disease (ORPHA:251282):
SPAX1
Autosomal dominant spastic ataxia type 1

Associated phenotypes (HPO):
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
Disease (ORPHA:208444):
Bilateral frontal polymicrogyria

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
Disease (ORPHA:208441):
Bilateral parasagittal parieto-occipital polymicrogyria

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001345
hpo_term: Psychotic mentation
chpo_term: 精神心理状态
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0011297
hpo_term: Abnormal digit morphology
chpo_term: 手指/脚趾形态异常
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0031589
hpo_term: Suicidal ideation
chpo_term: 自杀意念
id: HP:0100852
hpo_term: Abnormal fear/anxiety-related behavior
chpo_term: 恐惧/焦虑相关行为异常
Disease (ORPHA:324575):
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Hyperinsulinism due to HNF1A deficiency

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0031084
hpo_term: Excessive insulin response to glucagon test
chpo_term: 胰岛素对胰高血糖素试验反应过度
id: HP:0040299
hpo_term: Decreased circulating free fatty acid level
chpo_term: 循环游离脂肪酸水平降低
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
Disease (ORPHA:544469):
PRUNE1-related neurological syndrome

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫