Disease (ORPHA:247691):
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy

Associated phenotypes (HPO):
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0006707
hpo_term: Abnormality of the hepatic vasculature
chpo_term: 肝脏血管异常
id: HP:0008223
hpo_term: Compensated hypothyroidism
chpo_term: 代偿性甲状腺功能减退症
id: HP:0011954
hpo_term: Nodular regenerative hyperplasia of liver
chpo_term: 肝脏结节性再生性增生
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0002083
hpo_term: Migraine without aura
chpo_term: 无先兆偏头痛
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0011163
hpo_term: Focal sensory seizure with somatosensory features
chpo_term: 伴躯体感觉特征的局灶性感觉性癫痫发作
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0030666
hpo_term: Retinal neovascularization
chpo_term: 视网膜新生血管形成
id: HP:0031606
hpo_term: Retinal cotton wool spot
chpo_term: 视网膜棉絮斑
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0040328
hpo_term: Focal hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质局灶高信号
id: HP:0040331
hpo_term: Focal hypointensity of cerebral white matter on MRI
chpo_term: MRI脑白质局灶低信号
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0200030
hpo_term: Punctate vasculitis skin lesions
chpo_term: 表皮点状血管炎