TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:280210):
Connatal PMD
Severe PMD
Pelizaeus-Merzbacher disease type II
Pelizaeus-Merzbacher disease, connatal form

Associated phenotypes (HPO):
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006511
hpo_term: Laryngeal stridor
chpo_term: 喉喘鸣
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0030187
hpo_term: Titubation
chpo_term: 蹒跚
id: HP:0031954
hpo_term: Dystonic gait
chpo_term: 肌张力障碍性步态
id: HP:0040330
hpo_term: Confluent hyperintensity of cerebral white matter on MRI
chpo_term: 脑白质融合性高信号的MRI表现
id: HP:0430015
hpo_term: Abnormal morphology of musculature of pharynx
chpo_term: 咽部肌肉组织形态异常
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
Disease (ORPHA:284):
Echinococcus multilocularis infection
Alveolar echinococcosis

Associated phenotypes (HPO):
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0011732
hpo_term: Abnormality of adrenal morphology
chpo_term: 肾上腺形态异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025408
hpo_term: Abnormal spleen morphology
chpo_term: 脾脏形态异常
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0032445
hpo_term: Pulmonary cyst
chpo_term: 肺囊肿
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000775
hpo_term: Abnormality of the diaphragm
chpo_term: 膈肌异常
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001697
hpo_term: Abnormal pericardium morphology
chpo_term: 心包形态异常
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0002639
hpo_term: Budd-Chiari syndrome
chpo_term: Budd-Chiari综合征
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0011805
hpo_term: Abnormal skeletal muscle morphology
chpo_term: 骨骼肌形态异常
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0025487
hpo_term: Abnormality of bladder morphology
chpo_term: 膀胱形态异常
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
Disease (ORPHA:2818):
Spastic paraplegia-glaucoma-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
Disease (ORPHA:2819):
Spastic paraplegia-facial-cutaneous lesions syndrome
Bahemuka-Brown syndrome

Associated phenotypes (HPO):
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
Disease (ORPHA:281):
Cri du chat syndrome
Monosomy 5p syndrome
Deletion 5p

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0200046
hpo_term: Cat cry
chpo_term: 猫叫
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0004348
hpo_term: Abnormality of bone mineral density
chpo_term: 骨密度异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:2821):
Spastic paraplegia-neuropathy-poikiloderma syndrome
Antinolo-Nieto-Borrego syndrome

Associated phenotypes (HPO):
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0003400
hpo_term: Basal lamina onion bulb formation
chpo_term: 基底层“洋葱头样”改变
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0011457
hpo_term: Loss of eyelashes
chpo_term: 睫毛消退
Disease (ORPHA:488635):
PIGG-CDG
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Congenital disorder of glycosylation due to PIGG deficiency

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0030047
hpo_term: Abnormal lateral ventricle morphology
chpo_term: 侧脑室形态异常
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007258
hpo_term: Severe demyelination of the white matter
chpo_term: 严重白质脱髓鞘
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0010510
hpo_term: Hypermobility of toe joints
chpo_term: 趾关节活动过度
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:2824):
Paraplegia-intellectual disability-hyperkeratosis syndrome
Fitzsimmons-McLachlan-Gilbert syndrome

Associated phenotypes (HPO):
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
Disease (ORPHA:2826):
Spastic paraplegia-precocious puberty syndrome

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0008185
hpo_term: Precocious puberty in males
chpo_term: 男性性早熟
id: HP:0010791
hpo_term: Hyperplasia of the Leydig cells
chpo_term: 睾丸间质细胞增生
Disease (ORPHA:2828):
Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD

Associated phenotypes (HPO):
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
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:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
id: HP:0030014
hpo_term: Female sexual dysfunction
chpo_term: 女性性功能障碍
id: HP:0040307
hpo_term: Male sexual dysfunction
chpo_term: 男性性功能障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000727
hpo_term: Frontal lobe dementia
chpo_term: 额叶痴呆
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
Disease (ORPHA:314978):
X-linked non progressive cerebellar ataxia

Associated phenotypes (HPO):
id: HP:0002470
hpo_term: Nonprogressive cerebellar ataxia
chpo_term: 非进行性小脑性共济失调
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
Disease (ORPHA:276198):
Spinocerebellar ataxia type 36
SCA36
Asidan

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
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:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
Disease (ORPHA:99104):
Atrial septal defect, coronary sinus type
ASD, coronary sinus type
Unroofed coronary sinus

Associated phenotypes (HPO):
id: HP:0012382
hpo_term: Left-to-right shunt
chpo_term: 左向右分流
id: HP:0031297
hpo_term: Unroofed coronary sinus
chpo_term: 无顶冠状窦
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031634
hpo_term: Anomalous origin of the left common carotid artery from the main pulmonary artery
chpo_term: 左颈总动脉于肺主动脉的异常起源
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0031687
hpo_term: Abnormally loud pulmonic component of the second heart sound
chpo_term: 第二心音的异常响亮肺闭塞音
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011710
hpo_term: Bundle branch block
chpo_term: 束支传导阻滞
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0031972
hpo_term: Presyncope
chpo_term: 晕厥前状态
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0005317
hpo_term: Increased pulmonary vascular resistance
chpo_term: 肺血管阻力增加
Disease (ORPHA:99105):
Atrial septal defect, sinus venosus type
ASD, sinus venosus type

Associated phenotypes (HPO):
id: HP:0012382
hpo_term: Left-to-right shunt
chpo_term: 左向右分流
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031546
hpo_term: Cardiac conduction abnormality
chpo_term: 心脏传导异常
id: HP:0031663
hpo_term: Paradoxical splitting of the second heart sound
chpo_term: 第二心音的悖论分裂
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0001692
hpo_term: Atrial arrhythmia
chpo_term: 房性心律不齐
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0006699
hpo_term: Premature atrial contractions
chpo_term: 房性早搏
id: HP:0011700
hpo_term: Automatic atrial tachycardia
chpo_term: 自律性房性心动过速
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0011716
hpo_term: Junctional ectopic tachycardia
chpo_term: 交界性异位心动过速
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
Disease (ORPHA:99106):
ASD, ostium primum type
Atrial septal defect, ostium primum type

Associated phenotypes (HPO):
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0004927
hpo_term: Pulmonary artery dilatation
chpo_term: 肺动脉扩张
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012248
hpo_term: Prolonged PR interval
chpo_term: PR间期延长
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031595
hpo_term: Abnormal P wave
chpo_term: 异常P波
id: HP:0031658
hpo_term: Third heart sound
chpo_term: 第三心音
id: HP:0031662
hpo_term: Fixed splitting of the second heart sound
chpo_term: 第二心音固定分裂
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0031687
hpo_term: Abnormally loud pulmonic component of the second heart sound
chpo_term: 第二心音的异常响亮肺闭塞音
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001694
hpo_term: Right-to-left shunt
chpo_term: 右向左分流
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾