TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:100):
Ataxia-telangiectasia
Louis-Bar syndrome

Associated phenotypes (HPO):
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
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:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003220
hpo_term: Abnormality of chromosome stability
chpo_term: 染色体稳定性异常
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0010515
hpo_term: Aplasia/Hypoplasia of the thymus
chpo_term: 胸腺未发育/发育不全
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100579
hpo_term: Mucosal telangiectasiae
chpo_term: 粘膜毛细血管扩张
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
Disease (ORPHA:102):
Multiple system atrophy
Multisystem atrophy
MSA

Associated phenotypes (HPO):
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008652
hpo_term: Autonomic erectile dysfunction
chpo_term: 自主性勃起功能障碍
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
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:0012670
hpo_term: Orthostatic syncope
chpo_term: 直立性晕厥
id: HP:0030015
hpo_term: Female anorgasmia
chpo_term: 女性性感缺失病
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0100595
hpo_term: Camptocormia
chpo_term: 驼背
Disease (ORPHA:280356):
FPLD4
PLIN1-related familial partial lipodystrophy
PLIN1-related FPLD

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000877
hpo_term: Insulin-resistant diabetes mellitus at puberty
chpo_term: 青春期胰岛素抵抗性糖尿病
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0003635
hpo_term: Loss of subcutaneous adipose tissue in limbs
chpo_term: 四肢皮下脂肪组织丢失
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009017
hpo_term: Loss of gluteal subcutaneous adipose tissue
chpo_term: 臀部皮下脂肪组织丢失
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0003117
hpo_term: Abnormal circulating hormone concentration
chpo_term: 血液激素水平异常
Disease (ORPHA:33445):
Neuroectodermal melanolysosomal disease
Elejalde neuroectodermal melanolysosomal disease

Associated phenotypes (HPO):
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002334
hpo_term: Abnormal cerebellar vermis morphology
chpo_term: 小脑蚓部形态异常
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0008059
hpo_term: Aplasia/Hypoplasia of the macula
chpo_term: 黄斑发育缺陷/不全
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0100308
hpo_term: Cerebral cortical hemiatrophy
chpo_term: 大脑皮层偏侧萎缩
Disease (ORPHA:50809):
Singh-Williams-McAlister syndrome
Talo-patello-scaphoid osteolysis

Associated phenotypes (HPO):
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0006202
hpo_term: Osteolysis of scaphoids
chpo_term: 舟状骨溶骨
id: HP:0006378
hpo_term: Osteolysis of patellae
chpo_term: 髌骨骨溶解
id: HP:0008095
hpo_term: Osteolysis of talus
chpo_term: 距骨骨溶解
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
Disease (ORPHA:134):
3-ketothiolase deficiency
T2 deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
Beta-ketothiolase deficiency
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria

Associated phenotypes (HPO):
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0007308
hpo_term: Extrapyramidal dyskinesia
chpo_term: 锥体外系运动障碍
id: HP:0012523
hpo_term: Oral aversion
chpo_term: 口服厌恶
id: HP:0012705
hpo_term: Abnormal metabolic brain imaging by MRS
chpo_term: 通过MRS发现的脑代谢异常
id: HP:0500001
hpo_term: Body odor
chpo_term: 体味
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:133):
Chronic beryllium disease
Chronic berylliosis
Chronic beryllium lung disease
Berylliosis

Associated phenotypes (HPO):
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0006516
hpo_term: Hypersensitivity pneumonitis
chpo_term: 过敏性肺炎
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0005607
hpo_term: Abnormal tracheobronchial morphology
chpo_term: 气管支气管系统形态异常
id: HP:0006527
hpo_term: Lymphocytic interstitial pneumonia
chpo_term: 淋巴细胞性间质性肺炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0025393
hpo_term: Reticulonodular pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见网状结节状结构
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0030877
hpo_term: Reduced FEV1/FVC ratio
chpo_term: 1秒率下降
id: HP:0030878
hpo_term: Abnormality on pulmonary function testing
chpo_term: 肺功能检测结果异常
id: HP:0031392
hpo_term: Abnormal proportion of CD4-positive T cells
chpo_term: CD4+ T细胞比例异常
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
Disease (ORPHA:136):
CADASIL
Hereditary multi-infarct dementia
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

Associated phenotypes (HPO):
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0032325
hpo_term: Lacunar stroke
chpo_term: 腔隙性中风
id: HP:0040329
hpo_term: Multifocal hyperintensity of cerebral white matter on MRI
chpo_term: 多灶性脑白质高信号的MRI表现
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0007236
hpo_term: Recurrent subcortical infarcts
chpo_term: 复发性皮质下梗死
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0010992
hpo_term: Stress urinary incontinence
chpo_term: 应激性尿失禁
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0031843
hpo_term: Bradyphrenia
chpo_term: 智力迟钝
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
Disease (ORPHA:504476):
CABV syndrome
Cerebellar ataxia with bilateral vestibulopathy syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
CANVAS

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0008568
hpo_term: Vestibular areflexia
chpo_term: 前庭反射消失
Disease (ORPHA:130):
Idiopathic ventricular fibrillation, Brugada type
Brugada syndrome

Associated phenotypes (HPO):
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0004751
hpo_term: Paroxysmal ventricular tachycardia
chpo_term: 阵发性室性心动过速
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0011704
hpo_term: Sick sinus syndrome
chpo_term: 病窦综合征
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0011715
hpo_term: Trifascicular block
chpo_term: 三支传导阻滞
Disease (ORPHA:132):
Hereditary butyrylcholinesterase deficiency
Hereditary pseudocholinesterase deficiency

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
Disease (ORPHA:131):
BCS
Budd-Chiari syndrome

Associated phenotypes (HPO):
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0030243
hpo_term: Hepatic vein thrombosis
chpo_term: 肝静脉血栓形成
id: HP:0033045
hpo_term: Bipedal edema
chpo_term: 双足水肿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
Disease (ORPHA:564178):
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000128
hpo_term: Renal potassium wasting
chpo_term: 肾源性钾流失
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0005567
hpo_term: Renal magnesium wasting
chpo_term: 肾脏镁消耗
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0012726
hpo_term: Episodic hypokalemia
chpo_term: 阵发性低钾血症
Disease (ORPHA:300493):
Sagliker syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0005101
hpo_term: High-frequency hearing impairment
chpo_term: 高频听力障碍
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0100649
hpo_term: Neoplasm of the oral cavity
chpo_term: 口腔肿瘤
Disease (ORPHA:127):
Borjeson-Forssman-Lehmann syndrome
Intellectual disability-epilepsy-endocrine disorders syndrome
BFLS

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:126):
Blepharophimosis-ptosis-epicanthus inversus syndrome
BPES

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0011481
hpo_term: Abnormal lacrimal duct morphology
chpo_term: 泪道形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
Disease (ORPHA:129):
Pseudopelade of Brocq

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:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹