TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:164180):
OCULOCEREBROCUTANEOUS SYNDROME
Oculocerebrocutaneous syndrome

Associated phenotypes (HPO):
id: HP:0001144
hpo_term: Orbital cyst
chpo_term: 眼眶囊肿
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0003191
hpo_term: Cleft ala nasi
chpo_term: 鼻翼裂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0007510
hpo_term: Focal dermal aplasia/hypoplasia
chpo_term: 真皮局灶性发育缺陷/发育不全
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0007115
hpo_term: Orbital encephalocele
chpo_term: 眶部脑膨出
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:144250):
Hyperlipidemia, familial combined, 3
HYPERLIPIDEMIA, FAMILIAL COMBINED, 3

Associated phenotypes (HPO):
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0003362
hpo_term: Increased VLDL cholesterol concentration
chpo_term: 循环系统内的极低密度脂蛋白胆固醇浓度增高
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0031798
hpo_term: Elevated circulating apolipoprotein B concentration
chpo_term: 载脂蛋白B水平增高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0031800
hpo_term: Elevated circulating apolipoprotein A-II concentration
chpo_term: 载脂蛋白A-II水平增高
Disease (OMIM:304800):
Diabetes insipidus, nephrogenic, X-linked
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001955
hpo_term: Unexplained fevers
chpo_term: 不明原因的发热
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001986
hpo_term: Hypertonic dehydration
chpo_term: 高渗性脱水
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:618774):
CEBALID syndrome
CEBALID SYNDROME

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0033011
hpo_term: Platystencephaly
chpo_term: 扁窄头
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:109350):
GASTROESOPHAGEAL REFLUX
Gastroesophageal reflux

Associated phenotypes (HPO):
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0100580
hpo_term: Barrett esophagus
chpo_term: Barrett食管
id: HP:0100751
hpo_term: Esophageal neoplasm
chpo_term: 食管肿瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608567):
Sick sinus syndrome 1
SICK SINUS SYNDROME 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011704
hpo_term: Sick sinus syndrome
chpo_term: 病窦综合征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0005155
hpo_term: Ventricular escape rhythm
chpo_term: 室性逸搏心律
id: HP:0033122
hpo_term: Absent P wave
chpo_term: P波消失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
Disease (OMIM:607654):
Keratosis palmoplantaris striata III
KERATOSIS PALMOPLANTARIS STRIATA III

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616981):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
Epileptic encephalopathy, early infantile, 37

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
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:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
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:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:192600):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
Cardiomyopathy, familial hypertrophic 1

Associated phenotypes (HPO):
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0001670
hpo_term: Asymmetric septal hypertrophy
chpo_term: 非对称性心室间隔肥厚
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
Disease (OMIM:616029):
Ectodermal dysplasia/short stature syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:618004):
Epileptic encephalopathy, early infantile, 64
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010763
hpo_term: Low insertion of columella
chpo_term: 鼻小柱低插入
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:161950):
IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000794
hpo_term: IgA deposition in the glomerulus
chpo_term: 肾小球IgA沉积
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617337):
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0032541
hpo_term: Knuckle pad
chpo_term: 手指关节垫
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0040154
hpo_term: Acne inversa
chpo_term: 化脓性汗腺炎
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0033252
hpo_term: Palmar hyperlinearity
chpo_term: 掌纹过多
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0007387
hpo_term: Hypoplastic sweat glands
chpo_term: 汗腺发育不全
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
Disease (OMIM:608217):
Epilepsy, benign neonatal, 3
SEIZURES, BENIGN FAMILIAL NEONATAL, 3

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:271245):
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033685
hpo_term: Fiber type grouping
chpo_term: 纤维类型分组
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0012847
hpo_term: Epilepsia partialis continua
chpo_term: 部分性癫痫发作持续状态
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0008278
hpo_term: Cerebellar cortical atrophy
chpo_term: 小脑皮质萎缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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: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:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
Disease (OMIM:613151):
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:605055):
Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0006790
hpo_term: Cerebral cortex with spongiform changes
chpo_term: 大脑皮质海绵状改变
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0100256
hpo_term: Senile plaques
chpo_term: 老年斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
Disease (OMIM:612529):
Amelogenesis imperfecta, hypomaturation type, iia2
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2

Associated phenotypes (HPO):
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033786
hpo_term: Hypomature enamel
chpo_term: 牙釉质化不足
Disease (OMIM:233710):
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2

Associated phenotypes (HPO):
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002740
hpo_term: Recurrent E. coli infections
chpo_term: 反复大肠杆菌感染
id: HP:0025044
hpo_term: Lung abscess
chpo_term: 肺脓肿
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0002741
hpo_term: Recurrent Serratia marcescens infections
chpo_term: 反复粘质沙雷氏菌感染
id: HP:0033608
hpo_term: Pulmonary nodule
chpo_term: 肺结节
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
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:0034752
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002955
hpo_term: Granulomatosis
chpo_term: 肉芽肿病
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0003206
hpo_term: Decreased activity of NADPH oxidase
chpo_term: NADPH氧化酶活性降低
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0003203
hpo_term: Impaired oxidative burst
chpo_term: 四氮唑蓝（NBT）还原试验阴性
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
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:0002724
hpo_term: Recurrent Aspergillus infections
chpo_term: 反复曲霉菌感染
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成
id: HP:0002723
hpo_term: Absence of bactericidal oxidative respiratory burst in phagocytes
chpo_term: 吞噬细胞中杀菌性氧化呼吸爆发的缺失
id: HP:0002742
hpo_term: Recurrent Klebsiella infections
chpo_term: 反复克雷伯杆菌感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002842
hpo_term: Recurrent Burkholderia cepacia infections
chpo_term: 反复伯克霍尔德菌感染
Disease (OMIM:608565):
Deafness, autosomal recessive 35
DEAFNESS, AUTOSOMAL RECESSIVE 35

Associated phenotypes (HPO):
id: HP:0031703
hpo_term: Abnormal ear morphology
chpo_term: 耳形态异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常