Disease (OMIM:301109):
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED

Associated phenotypes (HPO):
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
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:0020086
hpo_term: BCGitis
chpo_term: 接种卡介苗后局部或周边感染
id: HP:0032564
hpo_term: Ileitis
chpo_term: 回肠炎
id: HP:0031234
hpo_term: Neutrophilic infiltration of the skin
chpo_term: 皮肤中性粒细胞浸润
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0004844
hpo_term: Coombs-positive hemolytic anemia
chpo_term: Coombs试验阳性溶血性贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000265
hpo_term: Mastoiditis
chpo_term: 乳突炎
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:4000031
hpo_term: Anti-type VII collagen antibody
chpo_term: 抗VII型胶原抗体
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0033028
hpo_term: Anti-U1 ribonucleoprotein antibody positivity
chpo_term: 抗U1核糖蛋白抗体阳性
id: HP:4000025
hpo_term: Anti-integrin antibody positivity
chpo_term: 抗整合素抗体阳性
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0032069
hpo_term: Anti-thyroglobulin antibody positivity
chpo_term: 抗甲状腺球蛋白抗体阳性
id: HP:0033677
hpo_term: Acute respiratory distress syndrome
chpo_term: 急性呼吸窘迫综合征
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降