Disease (ORPHA:809):
MCTD
Sharp syndrome
Mixed connective tissue disease

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0007514
hpo_term: Edema of the dorsum of hands
chpo_term: 手背水肿
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0011838
hpo_term: Sclerodactyly
chpo_term: 指硬皮病
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0033028
hpo_term: Anti-U1 ribonucleoprotein antibody positivity
chpo_term: 抗U1核糖蛋白抗体阳性
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:0034092
hpo_term: Anti-cyclic citrullinated peptide antibody positivity
chpo_term: 抗环瓜氨酸肽抗体阳性
id: HP:0034093
hpo_term: Anti-Ro52/TRIM21 antibody positivity
chpo_term: 抗Ro52/TRIM21抗体阳性
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
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:0005263
hpo_term: Gastritis
chpo_term: 胃炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0012578
hpo_term: Membranous nephropathy
chpo_term: 膜性肾病
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0030878
hpo_term: Abnormality on pulmonary function testing
chpo_term: 肺功能检测结果异常
id: HP:0031857
hpo_term: Ineffective esophageal peristalsis
chpo_term: 无效食道蠕动
id: HP:0033430
hpo_term: Non-infectious meningitis
chpo_term: 非感染性脑膜炎
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病