TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:145600):
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
Malignant hyperthermia, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0005967
hpo_term: Mixed respiratory and metabolic acidosis
chpo_term: 混合性呼吸和代谢性酸中毒
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614614):
DEAFNESS, AUTOSOMAL DOMINANT 4B
Deafness, autosomal dominant 4B

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:308960):
Leukemia, acute, ?x-linked
LEUKEMIA, ACUTE, X-LINKED

Associated phenotypes (HPO):
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:618748):
Intellectual developmental disorder with hypotonia and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0004792
hpo_term: Rectoperineal fistula
chpo_term: 直肠会阴瘘
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:272000):
Sucrosuria, hiatus hernia and mental retardation
SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614172):
Immunodeficiency 21
IMMUNODEFICIENCY 21

Associated phenotypes (HPO):
id: HP:0012312
hpo_term: Monocytopenia
chpo_term: 单核细胞减少症
id: HP:0012324
hpo_term: Myeloid leukemia
chpo_term: 髓系白血病
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011275
hpo_term: Recurrent mycobacterium avium complex infections
chpo_term: 反复鸟分枝杆菌复合菌感染
id: HP:0032242
hpo_term: Cervical intraepithelial neoplasia
chpo_term: 宫颈上皮内瘤变
id: HP:0031385
hpo_term: Megakaryocyte nucleus hypolobulation
chpo_term: 巨核细胞核分叶过少
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
Disease (OMIM:611022):
DEAFNESS, AUTOSOMAL RECESSIVE 24
Deafness, autosomal recessive, 24

Associated phenotypes (HPO):
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:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
Disease (OMIM:618760):
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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: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:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0032660
hpo_term: Convulsive status epilepticus
chpo_term: 惊厥性癫痫持续状态
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
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
Disease (OMIM:615244):
Nephrotic syndrome, type 8
NEPHROTIC SYNDROME, TYPE 8

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012577
hpo_term: Thin glomerular basement membrane
chpo_term: 肾小球基底膜变薄
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001967
hpo_term: Diffuse mesangial sclerosis
chpo_term: 弥漫性肾小球系膜硬化
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:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:277150):
Van bogaert-hozay syndrome
VAN BOGAERT-HOZAY SYNDROME

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0005033
hpo_term: Distal ulnar hypoplasia
chpo_term: 尺骨远端发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:615522):
Cole disease
COLE DISEASE

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0025520
hpo_term: Calcinosis cutis
chpo_term: 皮肤钙质沉着症
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:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0007530
hpo_term: Punctate palmoplantar hyperkeratosis
chpo_term: 点状掌跖角化
id: HP:0100529
hpo_term: Abnormal blood phosphate concentration
chpo_term: 磷酸盐稳态平衡异常
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
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:249900):
Metachromatic leukodystrophy due to saposin B deficiency
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Associated phenotypes (HPO):
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:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
Disease (OMIM:312910):
SPASTIC PARAPARESIS AND DEAFNESS
Spastic paraparesis and deafness

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
Disease (OMIM:613153):
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5

Associated phenotypes (HPO):
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:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
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:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:600649):
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Carnitine palmitoyltransferase II deficiency, infantile

Associated phenotypes (HPO):
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:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
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:0001403
hpo_term: Macrovesicular hepatic steatosis
chpo_term: 大泡性肝脂肪变性
id: HP:0005943
hpo_term: Respiratory arrest
chpo_term: 呼吸骤停
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:618006):
LEUKODYSTROPHY, HYPOMYELINATING, 17
Leukodystrophy, hypomyelinating, 17

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:619318):
Oculogastrointestinal neurodevelopmental syndrome
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004320
hpo_term: Vaginal fistula
chpo_term: 阴道瘘
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0011480
hpo_term: Unilateral microphthalmos
chpo_term: 单侧小眼畸形
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008751
hpo_term: Laryngeal cleft
chpo_term: 喉裂
id: HP:0007687
hpo_term: Unilateral ptosis
chpo_term: 单侧上睑下垂
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0020206
hpo_term: Simple ear
chpo_term: 简平耳
Disease (OMIM:204800):
AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:618012):
Developmental and epileptic encephalopathy 93
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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: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:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
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:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617321):
YAO SYNDROME
Yao syndrome

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
Disease (OMIM:601543):
Deafness, autosomal dominant nonsyndromic sensorineural 12
DEAFNESS, AUTOSOMAL DOMINANT 12

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614628):
Keratoconus 8
KERATOCONUS 8

Associated phenotypes (HPO):
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传