TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:615425):
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
Epidermolysis bullosa simplex, autosomal recessive 2

Associated phenotypes (HPO):
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
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:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0032449
hpo_term: Abnormal dermoepidermal hemidesmosome morphology
chpo_term: 真皮表皮半桥粒形态异常
Disease (OMIM:615343):
PULMONARY HYPERTENSION, PRIMARY, 3
Pulmonary hypertension, primary, 3

Associated phenotypes (HPO):
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0005317
hpo_term: Increased pulmonary vascular resistance
chpo_term: 肺血管阻力增加
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:147892):
Deiodinase, iodothyronine, type I
DEIODINASE, IODOTHYRONINE, TYPE I

Associated phenotypes (HPO):
id: HP:0008247
hpo_term: Euthyroid hyperthyroxinemia
chpo_term: 甲状腺功能正常的高甲状腺素血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
Disease (OMIM:608474):
Myopia 5
MYOPIA 5, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616892):
Nephrotic syndrome, type 12
NEPHROTIC SYNDROME, TYPE 12

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
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:0012588
hpo_term: Steroid-resistant nephrotic syndrome
chpo_term: 激素耐受性肾病综合征
Disease (OMIM:618667):
HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1
Hydrocephalus, congenital communicating, 1

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601322):
Porencephaly, cerebellar hypoplasia, and internal malformations
PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
Disease (OMIM:611131):
Retinitis pigmentosa 37
RETINITIS PIGMENTOSA 37

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000552
hpo_term: Tritanomaly
chpo_term: 蓝色弱
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
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:0008028
hpo_term: Cystoid macular degeneration
chpo_term: 黄斑囊样变性
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000642
hpo_term: Red-green dyschromatopsia
chpo_term: 红绿色觉障碍
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617540):
PITUITARY ADENOMA 5, MULTIPLE TYPES
Pituitary adenoma 5, multiple types

Associated phenotypes (HPO):
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614049):
ATRIAL FIBRILLATION, FAMILIAL, 11
Atrial fibrillation, familial, 11

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0006677
hpo_term: Prolonged QRS complex
chpo_term: QRS波群延长
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034308
hpo_term: Prolonged P wave
chpo_term: P波延长
Disease (OMIM:612438):
Leukodystrophy, hypomyelinating, 6
LEUKODYSTROPHY, HYPOMYELINATING, 6

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0002063
hpo_term: Rigidity
chpo_term: 强直
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:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:615431):
MYOPIA 23, AUTOSOMAL RECESSIVE
Myopia 23, autosomal recessive

Associated phenotypes (HPO):
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0007800
hpo_term: Increased axial length of the globe
chpo_term: 眼球轴长度增加
Disease (OMIM:618115):
SPERMATOGENIC FAILURE 32
Spermatogenic failure 32

Associated phenotypes (HPO):
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0034299
hpo_term: Sertoli cell-only phenotype
chpo_term: 纯睾丸支持细胞表型
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:263750):
Postaxial acrofacial dysostosis
POSTAXIAL ACROFACIAL DYSOSTOSIS

Associated phenotypes (HPO):
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0005211
hpo_term: Midgut malrotation
chpo_term: 中肠旋转不良
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002946
hpo_term: Supernumerary vertebrae
chpo_term: 额外椎骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
Disease (OMIM:616138):
Perrault syndrome 5
PERRAULT SYNDROME 5

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:600969):
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3
Epiphyseal dysplasia, multiple, 3, with or without myopathy

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0001384
hpo_term: Abnormal hip joint morphology
chpo_term: 髋关节形态异常
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
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
Disease (OMIM:620461):
Encephalopathy, acute, infection-induced, susceptibility to, 12
ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0025313
hpo_term: Exophoria
chpo_term: 外隐斜
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
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:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
Disease (OMIM:249620):
OHDO SYNDROME
Ohdo syndrome

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:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
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:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:256700):
Neuroblastoma, susceptibility to
NEUROBLASTOMA, SUSCEPTIBILITY TO, 1

Associated phenotypes (HPO):
id: HP:0006747
hpo_term: Ganglioneuroblastoma
chpo_term: 神经节神经母细胞瘤
id: HP:0011979
hpo_term: Elevated urinary dopamine
chpo_term: 尿多巴胺增高
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0011976
hpo_term: Elevated urinary catecholamines
chpo_term: 尿儿茶酚胺升高
id: HP:0010543
hpo_term: Opsoclonus
chpo_term: 斜视眼阵挛
id: HP:0011977
hpo_term: Elevated urinary homovanillic acid
chpo_term: 尿高香草酸水平升高
id: HP:0011978
hpo_term: Elevated urinary vanillylmandelic acid
chpo_term: 尿香草扁桃酸水平升高
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0033823
hpo_term: Mediastinal mass
chpo_term: 纵膈肿块
id: HP:0011281
hpo_term: Abnormality of urine catecholamine level
chpo_term: 尿儿茶酚胺水平异常
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:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0002277
hpo_term: Horner syndrome
chpo_term: 霍纳综合征
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:236792):
L-2-hydroxyglutaric aciduria
L-2-HYDROXYGLUTARIC ACIDURIA

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0040147
hpo_term: L-2-hydroxyglutaric acidemia
chpo_term: L-2-羟基戊二酸血症
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0040144
hpo_term: L-2-hydroxyglutaric aciduria
chpo_term: L-2-羟基戊二酸尿症
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007258
hpo_term: Severe demyelination of the white matter
chpo_term: 严重白质脱髓鞘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618840):
ALOPECIA-MENTAL RETARDATION SYNDROME 4
Alopecia-mental retardation syndrome 4

Associated phenotypes (HPO):
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:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
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:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620313):
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3
Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure

Associated phenotypes (HPO):
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
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
Disease (OMIM:217990):
Corpus callosum, agenesis of
CORPUS CALLOSUM, AGENESIS OF

Associated phenotypes (HPO):
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:216330):
Cleidocranial dysplasia, recessive form
CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:128500):
Ear folding
EAR FOLDING

Associated phenotypes (HPO):
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传