Disease (OMIM:620376):
AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
Autoinflammatory disease, systemic, with vasculitis

Associated phenotypes (HPO):
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0025343
hpo_term: Lupus anticoagulant
chpo_term: 狼疮抗凝剂
id: HP:0011850
hpo_term: Parotitis
chpo_term: 腮腺炎
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0005404
hpo_term: Increased B cell count
chpo_term: B细胞数量增多
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:4000037
hpo_term: Congenital hydrocele
chpo_term: 先天性鞘膜积液
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0100828
hpo_term: Increased T cell count
chpo_term: T细胞数目增多
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0006559
hpo_term: Hepatic calcification
chpo_term: 肝钙化
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0030167
hpo_term: Antimitochondrial antibody positivity
chpo_term: 线粒体抗体阳性
id: HP:0000031
hpo_term: Epididymitis
chpo_term: 附睾炎
id: HP:0011944
hpo_term: Small vessel vasculitis
chpo_term: 小血管炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0033040
hpo_term: Anti-Sm antibody positivity
chpo_term: 抗Sm抗体阳性
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降