Disease (ORPHA:37042):
IPEX
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0003111
hpo_term: Abnormal blood ion concentration
chpo_term: 离子稳态平衡异常
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
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:0031401
hpo_term: Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
chpo_term: CD4阴性和CD8阴性的α-β调节性T细胞比例降低
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
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:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012578
hpo_term: Membranous nephropathy
chpo_term: 膜性肾病
id: HP:0030909
hpo_term: Anti-liver cytosolic antigen type 1 antibody positivity
chpo_term: 抗肝细胞胞浆抗原1型抗体阳性
id: HP:0031085
hpo_term: Decreased prealbumin level
chpo_term: 前白蛋白水平降低
id: HP:0031104
hpo_term: Insulin receptor antibody positivity
chpo_term: 胰岛素受体抗体阳性
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0002595
hpo_term: Ileus
chpo_term: 肠梗阻
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0005263
hpo_term: Gastritis
chpo_term: 胃炎
id: HP:0025156
hpo_term: Dependency on intravenous nutrition
chpo_term: 静脉营养依赖
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症