Disease (ORPHA:805):
Bourneville syndrome
Tuberous sclerosis
Tuberous sclerosis complex

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0009716
hpo_term: Subependymal nodules
chpo_term: 室管膜下结节
id: HP:0009717
hpo_term: Cortical tubers
chpo_term: 皮质结节
id: HP:0009719
hpo_term: Hypomelanotic macule
chpo_term: 色素脱失斑
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007449
hpo_term: Confetti-like hypopigmented macules
chpo_term: 斑驳样色素减退斑
id: HP:0008762
hpo_term: Repetitive compulsive behavior
chpo_term: 重复强迫行为
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
id: HP:0009729
hpo_term: Cardiac rhabdomyoma
chpo_term: 心脏横纹肌瘤
id: HP:0010615
hpo_term: Angiofibromas
chpo_term: 血管纤维瘤
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0012798
hpo_term: Pulmonary lymphangiomyomatosis
chpo_term: 肺淋巴管肌瘤病
id: HP:0040030
hpo_term: Chorioretinal hypopigmentation
chpo_term: 脉络膜视网膜色素沉着减退
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0006772
hpo_term: Renal angiomyolipoma
chpo_term: 肾血管平滑肌脂肪瘤
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009718
hpo_term: Subependymal giant-cell astrocytoma
chpo_term: 室管膜下巨细胞星形细胞瘤
id: HP:0010953
hpo_term: Noncommunicating hydrocephalus
chpo_term: 非交通性脑积水
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0100804
hpo_term: Ungual fibroma
chpo_term: 甲纤维瘤
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0008208
hpo_term: Parathyroid hyperplasia
chpo_term: 甲状旁腺增生
id: HP:0011029
hpo_term: Internal hemorrhage
chpo_term: 内出血
id: HP:0012778
hpo_term: Retinal astrocytic hamartoma
chpo_term: 视网膜星形细胞错构瘤
id: HP:0030405
hpo_term: Pancreatic endocrine tumor
chpo_term: 胰腺内分泌肿瘤
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌