TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:609270):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Spinocerebellar ataxia, autosomal recessive 7

Associated phenotypes (HPO):
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
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:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0030147
hpo_term: Truncal titubation
chpo_term: 躯干摇晃/躯干蹒跚
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0007338
hpo_term: Hypermetric saccades
chpo_term: 过快扫视
Disease (OMIM:147350):
INCISORS, ROTATION OF UPPER CENTRAL
Incisors, rotation of upper central

Associated phenotypes (HPO):
id: HP:0006330
hpo_term: Rotated maxillary central incisors
chpo_term: 螺旋形上颌中切牙
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612650):
Ciliary dyskinesia, primary, 12
CILIARY DYSKINESIA, PRIMARY, 12

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012260
hpo_term: Abnormal central microtubular pair morphology of respiratory motile cilia
chpo_term: 运动纤毛的中央成对微管形态异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (DECIPHER:43):
7q11.23 duplication syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:620184):
ATELIS SYNDROME 1
Atelis syndrome 1

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0040262
hpo_term: Glue ear
chpo_term: 胶耳
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008454
hpo_term: Lumbar kyphosis
chpo_term: 腰椎后凸
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012366
hpo_term: Basilar invagination
chpo_term: 颅底凹陷
id: HP:0031382
hpo_term: Decreased lymphocyte proliferation in response to anti-CD3
chpo_term: 淋巴细胞抗CD3应答性增殖减弱
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:300909):
Acquired angioedema
ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
Disease (OMIM:616436):
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
Epilepsy, familial temporal lobe, 7

Associated phenotypes (HPO):
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0011158
hpo_term: Focal sensory seizure with auditory features
chpo_term: 伴有听觉特征的局灶性感觉发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619705):
Immunodeficiency 93 and hypertrophic cardiomyopathy
IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0030388
hpo_term: Decreased proportion of class-switched memory B cells
chpo_term: 类别转换型记忆性 B 细胞比例减低
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033542
hpo_term: Bronchial wall thickening
chpo_term: 支气管壁增厚
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0030252
hpo_term: Absent circulating B cells
chpo_term: 血液B 细胞缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:606631):
Camurati-engelmann disease, type 2
CAMURATI-ENGELMANN DISEASE, TYPE 2

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (OMIM:270550):
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Spastic ataxia, Charlevoix-Saguenay type

Associated phenotypes (HPO):
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
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:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0006150
hpo_term: Swan neck-like deformities of the fingers
chpo_term: 手指天鹅颈样畸形
id: HP:4000169
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
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:0007221
hpo_term: Progressive truncal ataxia
chpo_term: 进行性躯干共济失调
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0007922
hpo_term: Hypermyelinated retinal nerve fibers
chpo_term: 视网膜神经纤维过度髓化
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:612644):
Deafness, autosomal dominant 2B
DEAFNESS, AUTOSOMAL DOMINANT 2B

Associated phenotypes (HPO):
id: HP:0005101
hpo_term: High-frequency hearing impairment
chpo_term: 高频听力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:207900):
ARGININOSUCCINIC ACIDURIA
Argininosuccinic aciduria

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0034734
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002038
hpo_term: Protein avoidance
chpo_term: 蛋白质回避
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032491
hpo_term: Increased circulating argininosuccinic acid
chpo_term: 血液精氨酸琥珀酸增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001951
hpo_term: Episodic ammonia intoxication
chpo_term: 阵发性氨中毒
id: HP:0003217
hpo_term: Hyperglutaminemia
chpo_term: 高谷氨酰胺血症
id: HP:0001950
hpo_term: Respiratory alkalosis
chpo_term: 呼吸性碱中毒
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (DECIPHER:57):
17q21.31 recurrent microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615895):
Polyglucosan body myopathy 1 with or without immunodeficiency
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
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:0032435
hpo_term: Neonatal omphalitis
chpo_term: 新生儿脐炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:618369):
Spinocerebellar ataxia, autosomal recessive 27
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27

Associated phenotypes (HPO):
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
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:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0008003
hpo_term: Jerky ocular pursuit movements
chpo_term: 急速眼追踪运动
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0007338
hpo_term: Hypermetric saccades
chpo_term: 过快扫视
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:615665):
Joubert syndrome 22
JOUBERT SYNDROME 22

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0007112
hpo_term: Temporal cortical atrophy
chpo_term: 颞叶皮质萎缩
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
Disease (OMIM:620806):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
Developmental and epileptic encephalopathy 116

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0500147
hpo_term: Hypoglutaminemia
chpo_term: 低谷氨酰胺血症
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0011170
hpo_term: Generalized myoclonic-atonic seizure
chpo_term: 全面性肌阵挛-失张力发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0500198
hpo_term: Decreased CSF glutamine concentration
chpo_term: 脑脊液谷氨酰胺浓度降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618341):
SPERMATOGENIC FAILURE 35
Spermatogenic failure 35

Associated phenotypes (HPO):
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033525
hpo_term: Absent sperm axoneme central pair complex
chpo_term: 精子轴丝中心对复合体缺失
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:617072):
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
Muscular dystrophy, limb-girdle, type 2Y

Associated phenotypes (HPO):
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0032359
hpo_term: Decreased forced expiratory flow 25-75%
chpo_term: 用力呼气流量减少25-75％
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0007181
hpo_term: Interosseus muscle atrophy
chpo_term: 骨间肌萎缩
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009697
hpo_term: Contracture of the distal interphalangeal joint of the fingers
chpo_term: 远端指关节挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大