Disease (OMIM:615688):
VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome

Associated phenotypes (HPO):
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0025343
hpo_term: Lupus anticoagulant
chpo_term: 狼疮抗凝剂
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:6000562
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0033260
hpo_term: Livedo racemosa
chpo_term: 葡萄状青斑
id: HP:0033261
hpo_term: Renal artery aneurysm
chpo_term: 肾动脉瘤
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0030351
hpo_term: Urticarial plaque
chpo_term: 荨麻疹性斑块
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
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:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0032154
hpo_term: Aphthous ulcer
chpo_term: 口疮性溃疡
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0030053
hpo_term: Stiff skin
chpo_term: 硬皮
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷