TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620427):
DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS
Dystonia 37, early-onset, with striatal lesions

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0031959
hpo_term: Leg dystonia
chpo_term: 腿肌张力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:121210):
FEBRILE SEIZURES, FAMILIAL, 1
Febrile seizures, familial, 1

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:309530):
Mental retardation, X-linked 1
MENTAL RETARDATION, X-LINKED 1

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0008763
hpo_term: No social interaction
chpo_term: 无社会交往
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:618806):
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant

Associated phenotypes (HPO):
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610282):
RETINITIS PIGMENTOSA 35
Retinitis pigmentosa 35

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:300514):
FANCONI ANEMIA, COMPLEMENTATION GROUP B
Fanconi anemia, complementation group B

Associated phenotypes (HPO):
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0004977
hpo_term: Bilateral radial aplasia
chpo_term: 双侧桡骨发育不全
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003220
hpo_term: Abnormality of chromosome stability
chpo_term: 染色体稳定性异常
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:204000):
LEBER CONGENITAL AMAUROSIS 1
Leber congenital amaurosis, type I

Associated phenotypes (HPO):
id: HP:0001099
hpo_term: Fundus atrophy
chpo_term: 眼底萎缩
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0003354
hpo_term: Hyperthreoninemia
chpo_term: 高苏氨酸血症
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001483
hpo_term: Eye poking
chpo_term: 戳眼
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0003296
hpo_term: Hyperthreoninuria
chpo_term: 高苏氨酸尿症
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:0012426
hpo_term: Optic disc drusen
chpo_term: 视盘玻璃疣
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
Disease (OMIM:256020):
Focal segmental glomerulosclerosis 10
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012579
hpo_term: Minimal change glomerulonephritis
chpo_term: 微小病变性肾小球肾炎
Disease (OMIM:249100):
Familial Mediterranean fever, AR
FAMILIAL MEDITERRANEAN FEVER

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0001055
hpo_term: Erysipelas
chpo_term: 丹毒
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0033332
hpo_term: Elevated circulating amyloid A
chpo_term: 循环淀粉样蛋白A升高
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0100796
hpo_term: Orchitis
chpo_term: 睾丸炎
id: HP:0100796
hpo_term: Orchitis
chpo_term: 睾丸炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0032154
hpo_term: Aphthous ulcer
chpo_term: 口疮性溃疡
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:613953):
Immunodeficiency 51
IMMUNODEFICIENCY 51

Associated phenotypes (HPO):
id: HP:0033605
hpo_term: Pustular rash
chpo_term: 脓疱疹
id: HP:0004332
hpo_term: Abnormal lymphocyte morphology
chpo_term: 淋巴细胞形态异常
id: HP:0031409
hpo_term: Abnormal lymphocyte physiology
chpo_term: 淋巴细胞生理异常
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0011370
hpo_term: Recurrent cutaneous fungal infections
chpo_term: 复发性皮肤真菌感染
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0011132
hpo_term: Chronic furunculosis
chpo_term: 慢性疖病
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:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
Disease (OMIM:616803):
Lamb-Shaffer syndrome
LAMB-SHAFFER SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0008428
hpo_term: Vertebral clefting
chpo_term: 椎体裂
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:609923):
RETINITIS PIGMENTOSA 31
Retinitis pigmentosa 31

Associated phenotypes (HPO):
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
Disease (OMIM:614972):
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
Cholestasis, intrahepatic, of pregnancy 3

Associated phenotypes (HPO):
id: HP:0200150
hpo_term: Increased serum bile acid concentration during pregnancy
chpo_term: 孕期血清胆汁酸浓度增高
id: HP:0200148
hpo_term: Abnormal liver function tests during pregnancy
chpo_term: 孕期肝功能检查异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:500001):
Leber optic atrophy and dystonia
LEBER OPTIC ATROPHY AND DYSTONIA

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001112
hpo_term: Leber optic atrophy
chpo_term: Leber视神经萎缩
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
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:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:272800):
Tay-Sachs disease
TAY-SACHS DISEASE

Associated phenotypes (HPO):
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003495
hpo_term: GM2-ganglioside accumulation
chpo_term: GM2神经节苷脂堆积
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
Disease (OMIM:618184):
Neuropathy, congenital hypomyelinating, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:212138):
Carnitine-acylcarnitine translocase deficiency
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6000575
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:6000574
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
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:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:616817):
Microcephaly, short stature, and impaired glucose metabolism 2
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0030186
hpo_term: Kinetic tremor
chpo_term: 动作性震颤
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌