Disease (OMIM:619381):
Immunodeficiency 82 with systemic inflammation
IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION

Associated phenotypes (HPO):
id: HP:0033605
hpo_term: Pustular rash
chpo_term: 脓疱疹
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0005263
hpo_term: Gastritis
chpo_term: 胃炎
id: HP:0031397
hpo_term: Decreased proportion of naive T cells
chpo_term: 初始 T 细胞比例减低
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0032132
hpo_term: Decreased circulating total IgG
chpo_term: 血液总IgG降低
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005218
hpo_term: Anoperineal fistula
chpo_term: 肛门会阴瘘
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0033628
hpo_term: Bowel irritability
chpo_term: 肠易激
id: HP:0004464
hpo_term: Postauricular pit
chpo_term: 耳后凹陷
id: HP:6000257
id: HP:0002041
hpo_term: Intractable diarrhea
chpo_term: 顽固性腹泻
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0003460
hpo_term: Decreased circulating total IgA
chpo_term: 循环总 IgA 降低
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP: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:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0009797
hpo_term: Cholesteatoma
chpo_term: 胆脂瘤
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成