Disease (ORPHA:110):
BBS
Bardet-Biedl syndrome

Associated phenotypes (HPO):
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0008915
hpo_term: Childhood-onset truncal obesity
chpo_term: 儿童期发病的躯干肥胖
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0025691
hpo_term: Impaired fasting glucose
chpo_term: 空腹血糖受损
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008376
hpo_term: Nasal, dysarthic speech
chpo_term: 鼻，构音障碍
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010747
hpo_term: Medial flaring of the eyebrow
chpo_term: 眉中部发散扩展
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011026
hpo_term: Aplasia/Hypoplasia of the vagina
chpo_term: 阴道发育不全/发育不良
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0030010
hpo_term: Hydrometrocolpos
chpo_term: 子宫阴道积水
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0005769
hpo_term: Fifth finger distal phalanx clinodactyly
chpo_term: 第五指末节指骨弯曲