Disease (OMIM:619487):
Aicardi-Goutieres syndrome 9
AICARDI-GOUTIERES SYNDROME 9

Associated phenotypes (HPO):
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0006994
hpo_term: Diffuse leukoencephalopathy
chpo_term: 弥漫性脑白质病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0004722
hpo_term: Thickened glomerular basement membrane
chpo_term: 肾小球基底膜增厚
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0032263
hpo_term: Increased blood pressure
chpo_term: 血压升高
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
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:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
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:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残