Disease (OMIM:619573):
IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
Immunodeficiency 87 and autoimmunity

Associated phenotypes (HPO):
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
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:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
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:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0033222
hpo_term: Decreased CD4:CD8 ratio
chpo_term: CD4:CD8 比值减低
id: HP:0011131
hpo_term: Perianal dermatitis
chpo_term: 肛周皮炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0020072
hpo_term: Persistent EBV viremia
chpo_term: 持续性EBV病毒血症
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
id: HP:0031692
hpo_term: Severe cytomegalovirus infection
chpo_term: 重症巨细胞病毒感染
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001788
hpo_term: Premature rupture of membranes
chpo_term: 胎膜早破
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0200128
hpo_term: Biventricular hypertrophy
chpo_term: 双心室肥厚
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0031378
hpo_term: Abnormal lymphocyte proliferation
chpo_term: 淋巴细胞异常增殖
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0032229
hpo_term: Perinuclear antineutrophil antibody positivity
chpo_term: 核周抗中性粒细胞抗体阳性
id: HP:0033165
hpo_term: Necrotizing enterocolitis
chpo_term: 坏死性小肠结肠炎
id: HP:0034056
hpo_term: Increased fecal calprotectin level
chpo_term: 粪便钙卫蛋白水平升高
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0020136
hpo_term: Anticardiolipin IgG antibody positivity
chpo_term: 抗心磷脂IgG抗体阳性
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染