TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1277):
Stratton-Garcia-Young syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0004299
hpo_term: Hernia of the abdominal wall
chpo_term: 腹壁疝
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100818
hpo_term: Long thorax
chpo_term: 长胸廓
Disease (ORPHA:1276):
Bilginturan syndrome
Brachydactyly-arterial hypertension syndrome
Bilginturan brachydactyly
Brachydactyly type E, with short stature and hypertension

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
Disease (ORPHA:137667):
CM-AVM
Capillary malformation-arteriovenous malformation

Associated phenotypes (HPO):
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0004947
hpo_term: Arteriovenous fistula
chpo_term: 动静脉瘘
id: HP:0009127
hpo_term: Abnormality of the musculature of the limbs
chpo_term: 四肢肌肉异常
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0030713
hpo_term: Vein of Galen aneurysmal malformation
chpo_term: Galen静脉动脉瘤畸形
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000996
hpo_term: Facial capillary hemangioma
chpo_term: 面部毛细血管瘤
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
Disease (ORPHA:1275):
Brachydactyly-elbow wrist dysplasia syndrome
Liebenberg syndrome
Brachydactyly-joint dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009832
hpo_term: Abnormal distal phalanx morphology of finger
chpo_term: 末节指骨形态异常
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:226313):
Congenital hypothyroidism due to maternal intake of antithyroid drugs

Associated phenotypes (HPO):
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001070
hpo_term: Mottled pigmentation
chpo_term: 斑驳病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008820
hpo_term: Absent ossification of capital femoral epiphysis
chpo_term: 股骨头骨骺未发生骨化
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0500011
hpo_term: Moon facies
chpo_term: 满月脸
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
Disease (ORPHA:247234):
SAOA
Sporadic adult-onset ataxia of unknown etiology
Idiopathic late-onset cerebellar ataxia

Associated phenotypes (HPO):
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0007670
hpo_term: Abnormal vestibulo-ocular reflex
chpo_term: 前庭眼反射异常
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0008278
hpo_term: Cerebellar cortical atrophy
chpo_term: 小脑皮质萎缩
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
Disease (ORPHA:59181):
Sorsby pseudoinflammatory fundus dystrophy

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0030500
hpo_term: Yellow/white lesions of the macula
chpo_term: 黄斑黄/白病变
id: HP:0031528
hpo_term: Subretinal deposits
chpo_term: 视网膜下沉积物
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001129
hpo_term: Large central visual field defect
chpo_term: 中央大视野缺损
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0030491
hpo_term: Choriocapillaris atrophy
chpo_term: 脉络膜毛细血管层萎缩
id: HP:0030602
hpo_term: Abnormal fundus autofluorescence imaging
chpo_term: 眼底自发荧光成像异常
id: HP:0030625
hpo_term: Hyporeflective spaces on macular OCT
chpo_term: OCT 测量法黄斑区低反射性间隙
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
Disease (ORPHA:163976):
X-linked intellectual disability, Van Esch type

Associated phenotypes (HPO):
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0012646
hpo_term: Retractile testis
chpo_term: 睾丸回缩
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
Disease (ORPHA:98756):
Spinocerebellar ataxia type 2
SCA2

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0045007
hpo_term: Abnormal substantia nigra morphology
chpo_term: 黑质形态异常
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000623
hpo_term: Supranuclear ophthalmoplegia
chpo_term: 核上性眼肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003133
hpo_term: Abnormality of the spinocerebellar tracts
chpo_term: 脊髓小脑束异常
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0008311
hpo_term: Spinal cord posterior columns myelin loss
chpo_term: 脊髓后柱髓鞘脱失
id: HP:0012082
hpo_term: Cerebellar Purkinje layer atrophy
chpo_term: 小脑浦肯野细胞层萎缩
id: HP:0025461
hpo_term: Abnormal cell morphology
chpo_term: 细胞形态异常
id: HP:0030186
hpo_term: Kinetic tremor
chpo_term: 动作性震颤
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
Disease (ORPHA:98757):
Machado-Joseph disease
Spinocerebellar ataxia type 3
Machado disease
Azorean disease of the nervous system
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
SCA3
MJD

Associated phenotypes (HPO):
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
Disease (ORPHA:98758):
Spinocerebellar ataxia type 6
SCA6

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0030511
hpo_term: Bradyopsia
chpo_term: 运动视觉障碍
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
Disease (ORPHA:98759):
Huntington disease-like 4
Spinocerebellar ataxia type 17
SCA17
HDL4

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007058
hpo_term: Generalized cerebral atrophy/hypoplasia
chpo_term: 广泛性脑萎缩/发育不全
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0012082
hpo_term: Cerebellar Purkinje layer atrophy
chpo_term: 小脑浦肯野细胞层萎缩
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
Disease (ORPHA:261529):
Ring chromosome Y
Ring chromosome Y syndrome
r(Y)

Associated phenotypes (HPO):
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0000061
hpo_term: Ambiguous genitalia, female
chpo_term: 女性外阴性别不明
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0008669
hpo_term: Abnormal spermatogenesis
chpo_term: 生精异常
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0010460
hpo_term: Abnormality of the female genitalia
chpo_term: 女性生殖器官异常
id: HP:0010461
hpo_term: Abnormality of the male genitalia
chpo_term: 男性生殖器异常
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:98755):
Spinocerebellar ataxia type 1
SCA1

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0007001
hpo_term: Loss of Purkinje cells in the cerebellar vermis
chpo_term: 小脑蚓部浦肯野细胞缺失
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0007928
hpo_term: Abnormal flash visual evoked potentials
chpo_term: 闪光视觉诱发电位异常
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0025401
hpo_term: Staring gaze
chpo_term: 凝视
id: HP:0030216
hpo_term: Inertia
chpo_term: 惰性
id: HP:0040129
hpo_term: Abnormal nerve conduction velocity
chpo_term: 神经传导速度异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007338
hpo_term: Hypermetric saccades
chpo_term: 过快扫视
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0410011
hpo_term: Abnormality of masticatory muscle
chpo_term: 咀嚼肌异常
Disease (ORPHA:261524):
UPD(X)pat
Paternal uniparental disomy of chromosome X syndrome

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0100853
hpo_term: Hypoplastic areola
chpo_term: 乳晕发育不良
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
Disease (ORPHA:2590):
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Jankovic-Rivera syndrome
SMA-PME

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001757
hpo_term: High-frequency sensorineural hearing impairment
chpo_term: 高频感音神经性听力障碍
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0025097
hpo_term: Eyelid myoclonus
chpo_term: 眼睑肌阵挛
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0032667
hpo_term: Myoclonic status epilepticus
chpo_term: 肌阵挛癫痫持续状态
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节