TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:537):
Toxic epidermal necrolysis
Lyell syndrome

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
id: HP:0000795
hpo_term: Abnormality of the urethra
chpo_term: 尿道异常
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:319487):
FNMTC
Familial pure nonmedullary thyroid carcinoma
Familial papillary or follicular thyroid carcinoma

Associated phenotypes (HPO):
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0006731
hpo_term: Follicular thyroid carcinoma
chpo_term: 甲状腺滤泡癌
id: HP:0006766
hpo_term: Papillary renal cell carcinoma
chpo_term: 乳头状肾细胞癌
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:3000037
hpo_term: Abnormal neck blood vessel morphology
chpo_term: 颈部血管形态异常
Disease (ORPHA:536):
Disseminated lupus erythematosus
SLE
Systemic lupus erythematosus

Associated phenotypes (HPO):
id: HP:0033726
hpo_term: Lupus nephritis
chpo_term: 狼疮性肾炎
id: HP:0034076
hpo_term: Anti-ribosome Po antibody positivity
chpo_term: 抗核糖体PO蛋白抗体阳性
id: HP:0034077
hpo_term: Anti-complement component C1q antibody positivity
chpo_term: 抗补体C1q抗体阳性
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:5000038
hpo_term: Anti-titin antibody positivity
chpo_term: 抗titin抗体阳性
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0012085
hpo_term: Pyuria
chpo_term: 脓尿
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0032235
hpo_term: Anti-La/SS-B antibody positivity
chpo_term: 抗 La/SS-B 抗体阳性
id: HP:0033028
hpo_term: Anti-U1 ribonucleoprotein antibody positivity
chpo_term: 抗U1核糖蛋白抗体阳性
id: HP:0033040
hpo_term: Anti-Sm antibody positivity
chpo_term: 抗Sm抗体阳性
id: HP:0033556
hpo_term: Anti-nucleoporin 62 antibody positivity
chpo_term: 抗核孔蛋白 62 抗体阳性
id: HP:0034093
hpo_term: Anti-Ro52/TRIM21 antibody positivity
chpo_term: 抗Ro52/TRIM21抗体阳性
id: HP:0034096
hpo_term: Anti-phosphatidic acid antibody positivity
chpo_term: 抗磷脂酸抗体阳性
id: HP:0045073
hpo_term: Serositis
chpo_term: 浆膜腔炎症
id: HP:0100669
hpo_term: Abnormal pigmentation of the oral mucosa
chpo_term: 口腔粘膜色素沉着异常
id: HP:0100755
hpo_term: Abnormality of salivation
chpo_term: 流涎异常
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
Disease (ORPHA:391665):
HoFH
Homozygous familial hypercholesterolemia

Associated phenotypes (HPO):
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0005177
hpo_term: Premature arteriosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0004950
hpo_term: Peripheral arterial stenosis
chpo_term: 外周动脉狭窄
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
id: HP:0006693
hpo_term: Myocardial steatosis
chpo_term: 心肌脂肪变性
id: HP:0007201
hpo_term: Cerebral artery atherosclerosis
chpo_term: 脑动脉粥样硬化
id: HP:0012397
hpo_term: Aortic atherosclerotic lesion
chpo_term: 早发冠状动脉粥样硬化
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0100261
hpo_term: Abnormal tendon morphology
chpo_term: 肌腱形态异常
id: HP:3000062
hpo_term: Abnormal internal carotid artery morphology
chpo_term: 颈内动脉形态异常
id: HP:0000799
hpo_term: Renal steatosis
chpo_term: 肾脂肪变性
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004381
hpo_term: Supravalvular aortic stenosis
chpo_term: 主动脉瓣上狭窄
id: HP:0004963
hpo_term: Calcification of the aorta
chpo_term: 主动脉钙化
id: HP:0010874
hpo_term: Tendon xanthomatosis
chpo_term: 腱黄瘤病
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0012373
hpo_term: Abnormal eye physiology
chpo_term: 眼部生理异常
id: HP:0012638
hpo_term: Abnormal nervous system physiology
chpo_term: 神经系统生理功能异常
id: HP:0030882
hpo_term: Coronary artery aneurysm
chpo_term: 冠状动脉瘤
Disease (ORPHA:574):
21q deletion syndrome
21q- syndrome
Partial 21q monosomy

Associated phenotypes (HPO):
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
Disease (ORPHA:573):
Monilethrix
Moniliform hair syndrome

Associated phenotypes (HPO):
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:575):
Muckle-Wells syndrome
Neutrophilic urticaria

Associated phenotypes (HPO):
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0004299
hpo_term: Hernia of the abdominal wall
chpo_term: 腹壁疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100534
hpo_term: Episcleritis
chpo_term: 巩膜外层炎
Disease (ORPHA:99642):
Spondyloepimetaphyseal dysplasia, Handigodu type

Associated phenotypes (HPO):
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004594
hpo_term: Hump-shaped mound of bone in central and posterior portions of vertebral endplate
chpo_term: 椎体终板中后部骨质驼峰状凸起
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0010575
hpo_term: Dysplasia of the femoral head
chpo_term: 股骨头发育不良
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004026
hpo_term: Broad radial metaphysis
chpo_term: 桡骨干骺端变宽
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0006387
hpo_term: Wide distal femoral metaphysis
chpo_term: 股骨远端干骺端增宽
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
Disease (ORPHA:570):
Möbius syndrome
Moebius syndrome

Associated phenotypes (HPO):
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009751
hpo_term: Aplasia of the pectoralis major muscle
chpo_term: 胸大肌发育不全
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004050
hpo_term: Absent hand
chpo_term: 手缺如
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0005914
hpo_term: Aplasia/Hypoplasia involving the metacarpal bones
chpo_term: 掌骨发育不全或发育低下
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0010295
hpo_term: Aplasia/Hypoplasia of the tongue
chpo_term: 舌未发育/舌发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
Disease (ORPHA:572):
MHC class II deficiency
Bare lymphocyte syndrome type 2
Immunodeficiency by defective expression of MHC class II

Associated phenotypes (HPO):
id: HP:0031390
hpo_term: Reduced MHC II surface expression
chpo_term: 表面MHC-II表达降低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0005354
hpo_term: Lack of T cell function
chpo_term: T细胞功能缺陷
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0005368
hpo_term: Abnormality of humoral immunity
chpo_term: 体液免疫异常
id: HP:0005386
hpo_term: Recurrent protozoan infections
chpo_term: 反复原虫感染
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0025347
hpo_term: Decreased circulating beta-2-microglobulin level
chpo_term: 循环β2-微球蛋白水平降低
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0200124
hpo_term: Chronic hepatitis due to cryptosporidium infection
chpo_term: 隐孢子虫感染引起的慢性肝炎
id: HP:0000371
hpo_term: Acute otitis media
chpo_term: 急性中耳炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003139
hpo_term: Panhypogammaglobulinemia
chpo_term: 全丙种球蛋白减少血症
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0031394
hpo_term: Abnormal CD4:CD8 ratio
chpo_term: CD4/CD8比值异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
Disease (ORPHA:254875):
Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0007105
hpo_term: Infantile encephalopathy
chpo_term: 婴儿脑病
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0005946
hpo_term: Ventilator dependence with inability to wean
chpo_term: 呼吸机依赖无法脱机
id: HP:0008610
hpo_term: Infantile sensorineural hearing impairment
chpo_term: 婴幼儿感音神经性听力损失
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩