TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617798):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
Intellectual developmental disorder, autosomal dominant 53

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011327
hpo_term: Posterior plagiocephaly
chpo_term: 后斜头畸形
id: HP:0007074
hpo_term: Thick corpus callosum
chpo_term: 胼胝体增厚
id: HP:0100814
hpo_term: Blue nevus
chpo_term: 蓝痣
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:616486):
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities

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:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:214700):
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
Diarrhea 1, secretory chloride, congenital

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003113
hpo_term: Hypochloremia
chpo_term: 低氯血症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0034470
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001948
hpo_term: Alkalosis
chpo_term: 碱中毒
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0032067
hpo_term: Elevated serum bicarbonate concentration
chpo_term: 血清碳酸氢盐浓度升高
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000841
hpo_term: Hyperactive renin-angiotensin system
chpo_term: 肾素-血管紧张素系统亢进
Disease (OMIM:178110):
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003302
hpo_term: Spondylolisthesis
chpo_term: 脊椎滑脱症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001040
hpo_term: Multiple pterygia
chpo_term: 多发翼状胬肉
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0033142
hpo_term: Long nasal bridge
chpo_term: 长鼻梁
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0008445
hpo_term: Cervical spinal canal stenosis
chpo_term: 颈椎椎管狭窄
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:167030):
NEPHROLITHIASIS, CALCIUM OXALATE
Nephrolithiasis, calcium oxalate

Associated phenotypes (HPO):
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0003159
hpo_term: Hyperoxaluria
chpo_term: 高草酸尿症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:604928):
Wolfram syndrome 2
WOLFRAM SYNDROME 2

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008320
hpo_term: Impaired collagen-induced platelet aggregation
chpo_term: 胶原诱导的血小板凝集障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:127400):
DYSCHROMATOSIS SYMMETRICA HEREDITARIA
Dyschromatosis symmetrica hereditaria 1

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0007441
hpo_term: Hyperpigmented/hypopigmented macules
chpo_term: 色素沉着/色素减退斑（色素异常斑）
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:310200):
Duchenne muscular dystrophy
MUSCULAR DYSTROPHY, DUCHENNE TYPE

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
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:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
Disease (OMIM:620646):
Combined oxidative phosphorylation deficiency 59
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
Disease (OMIM:617954):
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
Multiple mitochondrial dysfunctions syndrome 6

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
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:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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: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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:255990):
NATHALIE SYNDROME
Nathalie syndrome

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (OMIM:608874):
OROFACIAL CLEFT 5
Orofacial cleft 5

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:123100):
Craniosynostosis 1
CRANIOSYNOSTOSIS 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000263
hpo_term: Oxycephaly
chpo_term: 锥形头
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0011317
hpo_term: Right unicoronal synostosis
chpo_term: 右侧冠状缝闭合
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
Disease (OMIM:605388):
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE
Cerebral palsy, ataxic, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
Disease (OMIM:618497):
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS

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:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
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:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:126050):
Digitotalar dysmorphism
DIGITOTALAR DYSMORPHISM

Associated phenotypes (HPO):
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小