TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:26):
Combined defect in adenosylcobalamin and methylcobalamin synthesis
Methylmalonic aciduria with homocystinuria
Methylmalonic acidemia with homocystinuria

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001980
hpo_term: Megaloblastic bone marrow
chpo_term: 巨幼细胞性骨髓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
Disease (ORPHA:101039):
Juberg-Hellman syndrome
Female restricted epilepsy with intellectual disability
EFMR

Associated phenotypes (HPO):
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:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011172
hpo_term: Complex febrile seizure
chpo_term: 复杂性高热惊厥
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
Disease (ORPHA:97244):
Rigid spine syndrome
Rigid spine congenital muscular dystrophy

Associated phenotypes (HPO):
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0030878
hpo_term: Abnormality on pulmonary function testing
chpo_term: 肺功能检测结果异常
id: HP:0031546
hpo_term: Cardiac conduction abnormality
chpo_term: 心脏传导异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
Disease (ORPHA:330050):
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Associated phenotypes (HPO):
id: HP:0012103
hpo_term: Abnormality of the mitochondrion
chpo_term: 线粒体异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012569
hpo_term: Delayed menarche
chpo_term: 月经初潮延迟
Disease (ORPHA:22):
SSADH deficiency
4-hydroxybutyric aciduria
Succinic semialdehyde dehydrogenase deficiency
Gamma-hydroxybutyric aciduria

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
Disease (ORPHA:27):
Vitamin B12-unresponsive methylmalonic aciduria
Methylmalonyl-Coenzyme A mutase deficiency
Methylmalonyl-CoA mutase deficiency
Vitamin B12-unresponsive methylmalonic acidemia

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (ORPHA:28):
Vitamin B12-responsive methylmalonic aciduria
Adenosylcobalamin deficiency
Vitamin B12-responsive methylmalonic acidemia

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
Disease (ORPHA:29):
Complete mevalonate kinase deficiency
MVA
Mevalonic aciduria

Associated phenotypes (HPO):
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:141179):
Non-involuting congenital hemangioma
NICH

Associated phenotypes (HPO):
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0007466
hpo_term: Midfrontal capillary hemangioma
chpo_term: 额中部毛细血管瘤
id: HP:0007618
hpo_term: Subcutaneous calcification
chpo_term: 皮下钙化
id: HP:0031449
hpo_term: Perineal hemangioma
chpo_term: 会阴血管瘤
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0031207
hpo_term: Hepatic hemangioma
chpo_term: 肝血管瘤
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
id: HP:0410266
hpo_term: Visceral hemangioma
chpo_term: 内脏血管瘤
id: HP:0012329
hpo_term: Tufted angioma
chpo_term: 丛状血管病
Disease (ORPHA:307):
Juvenile myoclonus epilepsy
Juvenile myoclonic epilepsy
JME

Associated phenotypes (HPO):
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0007000
hpo_term: Morning myoclonic jerks
chpo_term: 早晨肌阵挛样抽动
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
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:0007207
hpo_term: Photosensitive tonic-clonic seizure
chpo_term: 光敏性强直阵挛发作
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:306):
BFIE
BFIS
Benign familial infantile epilepsy
SeLIE
Benign familial infantile seizures
Self-limited infantile epilepsy
Benign familial infantile convulsions

Associated phenotypes (HPO):
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0002372
hpo_term: Normal interictal EEG
chpo_term: 发作间期正常脑电图
id: HP:0032807
hpo_term: Neonatal seizure
chpo_term: 新生儿癫痫发作
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0032678
hpo_term: Eyelid myoclonia seizure
chpo_term: 眼睑肌阵挛发作
id: HP:0032823
hpo_term: Neonatal electro-clinical seizure with behavior arrest
chpo_term: 新生儿电-临床动作停止发作
id: HP:0032906
hpo_term: Focal head nodding automatism seizure
chpo_term: 局灶性点头样自动症发作
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
Disease (ORPHA:314802):
Short stature due to partial GHR deficiency
Short stature due to partial growth hormone receptor deficiency

Associated phenotypes (HPO):
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
Disease (ORPHA:330054):
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0012343
hpo_term: Decreased circulating ferritin concentration
chpo_term: 血清铁蛋白降低
id: HP:0030089
hpo_term: Abnormal muscle fiber protein expression
chpo_term: 肌纤维蛋白表达异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
Disease (ORPHA:101030):
Subependymal nodular heterotopia

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011818
hpo_term: Nasofrontal encephalocele
chpo_term: 鼻额脑膨出
id: HP:0032046
hpo_term: Focal cortical dysplasia
chpo_term: 局灶性皮质发育不良
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0430005
hpo_term: Abnormal ethmoid bone morphology
chpo_term: 筛骨形态异常
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0011195
hpo_term: EEG with focal sharp slow waves
chpo_term: 脑电图，局灶性尖慢波
id: HP:0012013
hpo_term: EEG with temporal focal spike waves
chpo_term: 脑电图，伴颞区局灶棘慢波
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:308):
EPM1
ULD
Unverricht-Lundborg disease
Progressive myoclonus epilepsy type 1
Progressive myoclonic epilepsy type 1

Associated phenotypes (HPO):
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0007000
hpo_term: Morning myoclonic jerks
chpo_term: 早晨肌阵挛样抽动
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:137914):
Choanal atresia

Associated phenotypes (HPO):
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0031416
hpo_term: Abnormal nasal mucus secretion
chpo_term: 鼻黏液分泌异常
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0005321
hpo_term: Mandibulofacial dysostosis
chpo_term: 下颌面骨发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
Disease (ORPHA:220402):
Limited cutaneous systemic scleroderma
Limited cutaneous systemic sclerosis

Associated phenotypes (HPO):
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0008366
hpo_term: Foot joint contracture
chpo_term: 足关节挛缩
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0100579
hpo_term: Mucosal telangiectasiae
chpo_term: 粘膜毛细血管扩张
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100958
hpo_term: Narrow foramen obturatorium
chpo_term: 闭孔狭窄
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:302):
Inherited epidermodysplasia verruciformis
Lutz-Lewandowsky epidermodysplasia verruciformis
Lewandowsky-Lutz syndrome

Associated phenotypes (HPO):
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
Disease (ORPHA:370997):
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
MEB disease with bilateral multicystic leucodystrophy

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011197
hpo_term: EEG with focal spike waves
chpo_term: 脑电图，局灶性棘慢波
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0030046
hpo_term: Hypoglycosylation of alpha-dystroglycan
chpo_term: α-抗肌萎缩蛋白聚糖糖基化不良
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视