TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616329):
Maturity-onset diabetes of the young, type 13
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

Associated phenotypes (HPO):
id: HP:0045081
hpo_term: Abnormality of body mass index
chpo_term: 体重指数异常
id: HP:0030795
hpo_term: Reduced C-peptide level
chpo_term: C-肽水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0025329
hpo_term: Anti-glutamic acid decarboxylase antibody positivity
chpo_term: 抗谷氨酸脱羧酶抗体阳性
Disease (OMIM:192500):
Long QT syndrome 1
LONG QT SYNDROME 1

Associated phenotypes (HPO):
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001664
hpo_term: Torsade de pointes
chpo_term: 尖端扭转型室性心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:186575):
SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM
Synovial chondromatosis, familial, with dwarfism

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:180104):
Retinitis pigmentosa 9
RETINITIS PIGMENTOSA 9

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613251):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
Cardiomyopathy, familial hypertrophic, 14

Associated phenotypes (HPO):
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0033764
hpo_term: Death in middle age
chpo_term: 中年期死亡
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻
Disease (OMIM:302801):
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2
Charcot-Marie-Tooth disease, X-linked recessive, 2

Associated phenotypes (HPO):
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003482
hpo_term: EMG: axonal abnormality
chpo_term: 肌电图：轴突异常
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:200970):
Ackerman syndrome
ACKERMAN SYNDROME

Associated phenotypes (HPO):
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:617023):
Retinitis pigmentosa 75
RETINITIS PIGMENTOSA 75

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0031790
hpo_term: Mixed astigmatism
chpo_term: 混合散光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:618310):
Diamond-Blackfan anemia 18
DIAMOND-BLACKFAN ANEMIA 18

Associated phenotypes (HPO):
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0033074
hpo_term: Steroid-responsive anemia
chpo_term: 激素反应性贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0012139
hpo_term: Granulocytic hypoplasia
chpo_term: 粒细胞发育不全
Disease (OMIM:225500):
Ellis-Van creveld syndrome
ELLIS-VAN CREVELD SYNDROME

Associated phenotypes (HPO):
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0006035
hpo_term: Cone-shaped epiphyses of phalanges 2 to 5
chpo_term: 第二-第五指指骨锥形骨骺
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0006477
hpo_term: Abnormality of the alveolar ridges
chpo_term: 牙槽嵴异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001241
hpo_term: Capitate-hamate fusion
chpo_term: 头状骨-钩骨融合
id: HP:0011565
hpo_term: Common atrium
chpo_term: 共同心房
id: HP:0010454
hpo_term: Acetabular spurs
chpo_term: 髋臼骨刺
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0008921
hpo_term: Neonatal short-limb short stature
chpo_term: 新生儿短肢型矮小
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:601127):
Fallot complex with severe mental and growth retardation
FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION

Associated phenotypes (HPO):
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:254500):
Multiple myeloma
MYELOMA, MULTIPLE

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0031047
hpo_term: Paraproteinemia
chpo_term: 副蛋白血症
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
Disease (OMIM:617802):
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:620076):
BENT BONE DYSPLASIA SYNDROME 2
Bent bone dysplasia syndrome 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003274
hpo_term: Hypoplastic acetabulae
chpo_term: 髋臼发育低下
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0003865
hpo_term: Bowed humerus
chpo_term: 肱骨弯曲
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:300623):
FRAGILE X TREMOR/ATAXIA SYNDROME
Fragile X tremor/ataxia syndrome

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
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:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
Disease (OMIM:619191):
EPILEPSY, PROGRESSIVE MYOCLONIC, 12
Epilepsy, progressive myoclonic, 12

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:615973):
Cone-Rod dystrophy 20
CONE-ROD DYSTROPHY 20

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000552
hpo_term: Tritanomaly
chpo_term: 蓝色弱
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
Disease (OMIM:620704):
Encephalopathy, porphyria-related
ENCEPHALOPATHY, PORPHYRIA-RELATED

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:6000536
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0031890
hpo_term: Increased urine urobilinogen
chpo_term: 尿液尿胆原浓度升高
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0040318
hpo_term: Red urine
chpo_term: 红色尿液
id: HP:0002951
hpo_term: Partial absence of cerebellar vermis
chpo_term: 小脑蚓部部分缺如
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032002
hpo_term: Orange urine
chpo_term: 橙黄色尿液
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:4000199
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:608088):
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX
Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
Disease (OMIM:619185):
JOUBERT SYNDROME 37
Joubert syndrome 37

Associated phenotypes (HPO):
id: HP:0025186
hpo_term: Marcus Gunn jaw winking synkinesis
chpo_term: Marcus-Gunn下颌眼睑联动综合征
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:617816):
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
Glycosylphosphatidylinositol biosynthesis defect 16

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍