TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:261534):
49,XXXYY syndrome

Associated phenotypes (HPO):
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
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:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000744
hpo_term: Low frustration tolerance
chpo_term: 低挫折承受力
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0003782
hpo_term: Eunuchoid habitus
chpo_term: 类无睾者习性
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010506
hpo_term: Abnormal plantar dermatoglyphics
chpo_term: 跖部异常皮纹
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0045058
hpo_term: Abnormality of the testis size
chpo_term: 睾丸大小异常
Disease (ORPHA:98761):
SCA10
Spinocerebellar ataxia type 10

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0030186
hpo_term: Kinetic tremor
chpo_term: 动作性震颤
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
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:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
Disease (ORPHA:98762):
Spinocerebellar ataxia type 12
SCA12

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0030188
hpo_term: Tremor by anatomical site
chpo_term: 按解剖部位分类的震颤
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:85446):
Wild type ABeta2-microglobulinic amyloidosis
Dialysis-related arthropathy
Wild type ABeta2M amyloidosis
Dialysis-related amyloidosis
ABeta2Mwt amyloidosis

Associated phenotypes (HPO):
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0005106
hpo_term: Abnormality of the vertebral endplates
chpo_term: 椎骨终板异常
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
id: HP:0100261
hpo_term: Abnormal tendon morphology
chpo_term: 肌腱形态异常
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0030834
hpo_term: Shoulder pain
chpo_term: 肩痛
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001227
hpo_term: Abnormality of the thenar eminence
chpo_term: 大鱼际异常
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
Disease (ORPHA:85447):
ATTRV30M-related amyloidosis
ATTRV30M amyloidosis
Hereditary ATTRV30M-related amyloidosis

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
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:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
Disease (ORPHA:1270):
Bowen syndrome, Hutterite type
Bowen-Conradi syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:289601):
Calcification of joints and arteries
Hereditary arterial and articular multiple calcification syndrome
CALJA

Associated phenotypes (HPO):
id: HP:0003207
hpo_term: Arterial calcification
chpo_term: 动脉钙化
id: HP:0011025
hpo_term: Abnormal cardiovascular system physiology
chpo_term: 心血管系统生理异常
id: HP:0025015
hpo_term: Abnormal vascular morphology
chpo_term: 血管形态异常
id: HP:0025324
hpo_term: Arterial occlusion
chpo_term: 动脉闭塞
id: HP:0012101
hpo_term: Decreased serum creatinine
chpo_term: 血清肌酐降低
id: HP:0001717
hpo_term: Coronary artery calcification
chpo_term: 冠状动脉钙化
id: HP:0005116
hpo_term: Arterial tortuosity
chpo_term: 动脉迂曲
Disease (ORPHA:85448):
Hereditary amyloidosis, Finnish type
Gelsolin amyloidosis
Familial amyloidosis, Finnish type
Familial amyloid polyneuropathy type IV
AGel amyloidosis

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001005
hpo_term: Dermatological manifestations of systemic disorders
chpo_term: 系统性疾病的皮肤表现
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001149
hpo_term: Lattice corneal dystrophy
chpo_term: 格子样角膜营养不良
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0007067
hpo_term: Distal peripheral sensory neuropathy
chpo_term: 远端感觉性周围神经病变
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011356
hpo_term: Regional abnormality of skin
chpo_term: 皮肤局部异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0007488
hpo_term: Diffuse skin atrophy
chpo_term: 弥漫性皮肤萎缩
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0010749
hpo_term: Blepharochalasis
chpo_term: 眼皮松弛
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0025408
hpo_term: Abnormal spleen morphology
chpo_term: 脾脏形态异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002549
hpo_term: Deficit in phonologic short-term memory
chpo_term: 语音短时记忆缺陷
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
Disease (ORPHA:85445):
Inflammatory amyloidosis
Reactive amyloidosis
AA amyloidosis

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0025077
hpo_term: Decreased QRS voltage
chpo_term: QRS低电压
id: HP:0030164
hpo_term: Jaw claudication
chpo_term: 颌跛行
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
Disease (ORPHA:85450):
Hereditary amyloid nephropathy
Familial renal amyloidosis
Amyloidosis, Ostertag type
Hereditary renal amyloidosis
Familial amyloid nephropathy
Hereditary amyloidosis with primary renal involvement

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0032613
hpo_term: Renal interstitial amyloid deposits
chpo_term: 肾间质淀粉样蛋白沉积
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0012591
hpo_term: Abnormal urinary electrolyte concentration
chpo_term: 尿电解质浓度异常
id: HP:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0031799
hpo_term: Decreased circulating apolipoprotein AI concentration
chpo_term: 载脂蛋白AI水平降低
id: HP:0410281
hpo_term: Dyspepsia
chpo_term: 消化不良
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008720
hpo_term: Primary testicular failure
chpo_term: 原发性睾丸功能衰竭
Disease (ORPHA:1278):
Brachydactyly-preaxial hallux varus 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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:163971):
X-linked intellectual disability-microcephaly-testicular failure syndrome
X-linked intellectual disability, Cilliers 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:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
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:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
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:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
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:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100962
hpo_term: Shyness
chpo_term: 害羞
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:226316):
Genetic transient congenital hypothyroidism

Associated phenotypes (HPO):
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:0008263
hpo_term: Thyroid defect in oxidation and organification of iodide
chpo_term: 甲状腺碘氧化和有机化缺陷
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0011437
hpo_term: Maternal autoimmune disease
chpo_term: 母体自身免疫性疾病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0031169
hpo_term: Postterm pregnancy
chpo_term: 过期妊娠
id: HP:0031221
hpo_term: Abnormal radioactive iodine uptake test result
chpo_term: 放射性碘摄取试验异常
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
Disease (ORPHA:85451):
ATTRV122I-related amyloidosis
ATTRV122I amyloidosis

Associated phenotypes (HPO):
id: HP:0001692
hpo_term: Atrial arrhythmia
chpo_term: 房性心律不齐
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
id: HP:0031185
hpo_term: Increased circulating NT-proBNP concentration
chpo_term: NT-proBNP水平增高
id: HP:0410174
hpo_term: Increased circulating troponin T concentration
chpo_term: 循环肌钙蛋白T浓度升高
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0005150
hpo_term: Abnormal atrioventricular conduction
chpo_term: 房室传导异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
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:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
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:0025028
hpo_term: Abnormality of enteric nervous system morphology
chpo_term: 肠神经系统形态异常
id: HP:0100550
hpo_term: Tendon rupture
chpo_term: 肌腱断裂
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病