Disease (ORPHA:391487):
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Associated phenotypes (HPO):
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000832
hpo_term: Primary hypothyroidism
chpo_term: 原发性甲状腺功能减退症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002958
hpo_term: Immune dysregulation
chpo_term: 免疫失调
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0012163
hpo_term: Carotid artery dilatation
chpo_term: 颈动脉扩张
id: HP:0040160
hpo_term: Generalized osteoporosis
chpo_term: 全身性骨质疏松症
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:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
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:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002724
hpo_term: Recurrent Aspergillus infections
chpo_term: 反复曲霉菌感染
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0004966
hpo_term: Medial calcification of large arteries
chpo_term: 大动脉中层钙化
id: HP:0011459
hpo_term: Esophageal carcinoma
chpo_term: 食管癌
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012182
hpo_term: Oropharyngeal squamous cell carcinoma
chpo_term: 口咽部鳞状细胞癌
id: HP:0030355
hpo_term: Abnormal serum interferon-gamma level
chpo_term: 血清干扰素-γ水平异常
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症