Disease (OMIM:615846):
AICARDI-GOUTIERES SYNDROME 7
Aicardi-Goutieres syndrome 7

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
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:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0009710
hpo_term: Chilblains
chpo_term: 冻疮
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血