TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:183675):
Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Selective IgG subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency

Associated phenotypes (HPO):
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005231
hpo_term: Chronic gastritis
chpo_term: 慢性胃炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0011110
hpo_term: Recurrent tonsillitis
chpo_term: 复发性扁桃体炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0020096
hpo_term: Recurrent streptococcal infections
chpo_term: 复发性链球菌感染
id: HP:0000031
hpo_term: Epididymitis
chpo_term: 附睾炎
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0006562
hpo_term: Viral hepatitis
chpo_term: 病毒性肝炎
id: HP:0012476
hpo_term: Decreased specific pneumococcal antibody level
chpo_term: 特异性肺炎球菌抗体水平降低
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0030998
hpo_term: Cerebrospinal fluid rhinorrhoea
chpo_term: 脑脊液鼻漏
id: HP:0032262
hpo_term: Pulmonary tuberculosis
chpo_term: 肺结核
id: HP:0032275
hpo_term: Recurrent shingles
chpo_term: 复发性带状疱疹
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
Disease (ORPHA:3325):
Classic heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia type 2
Heparin-associated thrombocytopenia
HAT
HIT

Associated phenotypes (HPO):
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0030248
hpo_term: Mesenteric venous thrombosis
chpo_term: 肠系膜静脉血栓形成
id: HP:0040231
hpo_term: Abnormal onset of bleeding
chpo_term: 异常出血
Disease (ORPHA:99953):
HMSNR
CMT4G
Hereditary motor and sensory neuropathy, Russe Type
Charcot-Marie-Tooth disease type 4G

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
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:0007230
hpo_term: Decreased distal sensory nerve action potential
chpo_term: 远端感觉神经动作电位降低
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0012078
hpo_term: Motor conduction block
chpo_term: 运动传导阻滞
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
Disease (ORPHA:99950):
Hereditary motor and sensory neuropathy, Lom type
CMT4D
HMSN-Lom
HMSN, Lom type
Charcot-Marie-Tooth disease type 4D

Associated phenotypes (HPO):
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
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:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0032649
hpo_term: Skewfoot
chpo_term: 跖内收合并后足外翻畸形（又叫Z形足）
Disease (ORPHA:289504):
Combined malonic and methylmalonic aciduria
Combined malonic and methylmalonic acidemia
CMAMMA

Associated phenotypes (HPO):
id: HP:0002912
hpo_term: Methylmalonic acidemia
chpo_term: 甲基丙二酸血症
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0040145
hpo_term: Dicarboxylic acidemia
chpo_term: 二羧酸血症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0031064
hpo_term: Impaired continence
chpo_term: 失禁
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
Disease (ORPHA:60025):
Pulmonary alveolar microlithiasis

Associated phenotypes (HPO):
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0005317
hpo_term: Increased pulmonary vascular resistance
chpo_term: 肺血管阻力增加
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030874
hpo_term: Oxygen desaturation on exertion
chpo_term: 用力时血氧饱和度下降
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0032094
hpo_term: Increased circulating surfactant protein level
chpo_term: 血液表面活性蛋白水平升高
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
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:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025178
hpo_term: Subpleural interstitial thickening
chpo_term: 胸膜下间质增厚
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0031944
hpo_term: Pleural thickening
chpo_term: 胸膜增厚
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004241
hpo_term: Stippled calcification in carpal bones
chpo_term: 腕骨点状钙化
id: HP:0004382
hpo_term: Mitral valve calcification
chpo_term: 二尖瓣钙化
id: HP:0004724
hpo_term: Calcium nephrolithiasis
chpo_term: 钙性肾结石
id: HP:0004963
hpo_term: Calcification of the aorta
chpo_term: 主动脉钙化
id: HP:0008703
hpo_term: Gonadal calcification
chpo_term: 性腺钙化
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012215
hpo_term: Testicular microlithiasis
chpo_term: 睾丸微小结石症
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
id: HP:0100529
hpo_term: Abnormal blood phosphate concentration
chpo_term: 磷酸盐稳态平衡异常
Disease (ORPHA:60026):
Pulmonary nodular lymphoid hyperplasia
Pulmonary pseudolymphoma

Associated phenotypes (HPO):
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0030150
hpo_term: Plasmacytosis
chpo_term: 浆细胞增多症
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:171695):
Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
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:0031435
hpo_term: Monotonic speech
chpo_term: 单音调言语
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:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
Disease (ORPHA:329228):
Microcephalic primordial dwarfism, Walsh type
Microcephalic primordial dwarfism due to ZNF335 deficiency

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002060
hpo_term: Abnormal cerebral morphology
chpo_term: 大脑形态学异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002472
hpo_term: Small cerebral cortex
chpo_term: 小大脑皮层
id: HP:0002538
hpo_term: Abnormal cerebral cortex morphology
chpo_term: 大脑皮层形态异常
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012757
hpo_term: Abnormal neuron morphology
chpo_term: 神经元形态异常
Disease (ORPHA:3316):
Potter sequence-cleft lip/palate-cardiopathy syndrome
Thomas syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
Disease (ORPHA:60030):
Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Associated phenotypes (HPO):
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0005116
hpo_term: Arterial tortuosity
chpo_term: 动脉迂曲
id: HP:0005294
hpo_term: Arterial dissection
chpo_term: 动脉夹层
id: HP:0100718
hpo_term: Uterine rupture
chpo_term: 子宫破裂
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
Disease (ORPHA:3318):
ET
Essential thrombocythemia
Essential thrombocytosis

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005513
hpo_term: Increased megakaryocyte count
chpo_term: 巨核细胞计数增加
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0011875
hpo_term: Abnormal platelet morphology
chpo_term: 血小板形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031388
hpo_term: Megakaryocyte nucleus hyperlobulation
chpo_term: 巨核细胞核分叶过多
id: HP:0100576
hpo_term: Amaurosis fugax
chpo_term: 一时性黑蒙
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
id: HP:0030243
hpo_term: Hepatic vein thrombosis
chpo_term: 肝静脉血栓形成
id: HP:0032147
hpo_term: Erythromelalgia
chpo_term: 红斑性肢痛症
Disease (ORPHA:3319):
Congenital amegakaryocytic thrombocytopenia
CAMT

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
Disease (ORPHA:250984):
Autosomal recessive Stickler syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0007992
hpo_term: Lattice retinal degeneration
chpo_term: 格子样视网膜变性
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂