Disease (ORPHA:51):
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Encephalopathy with basal ganglia calcification
Aicardi-Goutières syndrome

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0007052
hpo_term: Multifocal cerebral white matter abnormalities
chpo_term: 多灶性脑白质异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001955
hpo_term: Unexplained fevers
chpo_term: 不明原因的发热
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
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:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007076
hpo_term: Extrapyramidal muscular rigidity
chpo_term: 锥体外系肌强直
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009704
hpo_term: Chronic CSF lymphocytosis
chpo_term: 慢性脑脊液淋巴细胞增多
id: HP:0009709
hpo_term: Increased CSF interferon alpha
chpo_term: 脑脊液干扰素α升高
id: HP:0009710
hpo_term: Chilblains
chpo_term: 冻疮
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0004809
hpo_term: Neonatal alloimmune thrombocytopenia
chpo_term: 新生儿同种免疫性血小板减少症
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0004963
hpo_term: Calcification of the aorta
chpo_term: 主动脉钙化
id: HP:0005550
hpo_term: Chronic lymphatic leukemia
chpo_term: 慢性淋巴细胞白血病
id: HP:0011834
hpo_term: Moyamoya phenomenon
chpo_term: 烟雾现象
id: HP:0030038
hpo_term: Enchondroma
chpo_term: 内生软骨瘤
id: HP:0040140
hpo_term: Degeneration of the striatum
chpo_term: 纹状体退行性变
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎