TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607482):
CARDIOMYOPATHY, DILATED, 1M
Cardiomyopathy, dilated, 1M

Associated phenotypes (HPO):
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0006670
hpo_term: Impaired myocardial contractility
chpo_term: 心肌收缩力受损
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:213600):
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
Basal ganglia calcification, idiopathic, 1

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002461
hpo_term: Dense calcifications in the cerebellar dentate nucleus
chpo_term: 小脑齿状核致密钙化
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004363
hpo_term: Abnormal circulating calcium concentration
chpo_term: 钙稳态平衡异常
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0031908
hpo_term: Micrographia
chpo_term: 写字过小症
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0002504
hpo_term: Calcification of the small brain vessels
chpo_term: 脑小血管钙化
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
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:617691):
SPINOCEREBELLAR ATAXIA 44
Spinocerebellar ataxia 44

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
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:0007338
hpo_term: Hypermetric saccades
chpo_term: 过快扫视
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
Disease (OMIM:209880):
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0006747
hpo_term: Ganglioneuroblastoma
chpo_term: 神经节神经母细胞瘤
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0031857
hpo_term: Ineffective esophageal peristalsis
chpo_term: 无效食道蠕动
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012416
hpo_term: Hypercapnia
chpo_term: 高碳酸血症
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0031861
hpo_term: Decreased heart rate variability
chpo_term: 心率变异性降低
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002877
hpo_term: Nocturnal hypoventilation
chpo_term: 夜间低通气
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:217300):
Cornea plana 2
CORNEA PLANA 2, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0100689
hpo_term: Decreased corneal thickness
chpo_term: 角膜厚度降低
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001084
hpo_term: Corneal arcus
chpo_term: 角膜环
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:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
Disease (OMIM:615938):
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0007074
hpo_term: Thick corpus callosum
chpo_term: 胼胝体增厚
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613391):
Deafness, autosomal recessive 84
DEAFNESS, AUTOSOMAL RECESSIVE 84A

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
Disease (OMIM:610698):
MACULAR DEGENERATION, AGE-RELATED, 4
Macular degeneration, age-related, 4

Associated phenotypes (HPO):
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610840):
Mitral valve prolapse, myxomatous 3
MITRAL VALVE PROLAPSE 3

Associated phenotypes (HPO):
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0003831
hpo_term: Typified by age-related penetrance
chpo_term: 具有年龄相关的外显率特征
Disease (OMIM:222350):
DIAMINOPENTANURIA

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003297
hpo_term: Hyperlysinuria
chpo_term: 高赖氨酸尿症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:609322):
RHABDOID TUMOR PREDISPOSITION SYNDROME 1
Rhabdoid tumor predisposition syndrome 1

Associated phenotypes (HPO):
id: HP:0030392
hpo_term: Choroid plexus carcinoma
chpo_term: 脉络丛癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
Disease (OMIM:616202):
Cerebellofaciodental syndrome
CEREBELLOFACIODENTAL SYNDROME

Associated phenotypes (HPO):
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0034259
hpo_term: Hypoplasia of the midbrain
chpo_term: 中脑发育不全
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000675
hpo_term: Macrodontia of permanent maxillary central incisor
chpo_term: 上颌恒中切牙巨齿
id: HP:0006511
hpo_term: Laryngeal stridor
chpo_term: 喉喘鸣
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0006461
hpo_term: Proximal femoral epiphysiolysis
chpo_term: 股骨近端骨骺生理溶解
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:619131):
OSTEOGENESIS IMPERFECTA, TYPE XXI
Osteogenesis imperfecta 21

Associated phenotypes (HPO):
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0006488
hpo_term: Bowing of the arm
chpo_term: 手臂弯曲
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
Disease (OMIM:600460):
Cleft palate, cardiac defect, genital anomalies, and ectrodactyly
CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0004960
hpo_term: Absent pulmonary artery
chpo_term: 肺动脉缺失
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:614415):
CHILBLAIN LUPUS 2
Chilblain lupus 2

Associated phenotypes (HPO):
id: HP:6000263
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0009710
hpo_term: Chilblains
chpo_term: 冻疮
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:174810):
FAMILIAL EXPANSILE OSTEOLYSIS
Familial expansile osteolysis

Associated phenotypes (HPO):
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0025124
hpo_term: Fragile teeth
chpo_term: 牙齿发脆
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
Disease (OMIM:612702):
Hypogonadotropic hypogonadism 6 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
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:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:226650):
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
Epidermolysis bullosa, junctional, Non-Herlitz type

Associated phenotypes (HPO):
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0006089
hpo_term: Palmar hyperhidrosis
chpo_term: 出汗不良性湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (OMIM:614373):
Amyotrophic lateral sclerosis 16, juvenile
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:310490):
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
Cowchock syndrome

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:618549):
Hepatitis, fulminant viral, susceptibility to
HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0004787
hpo_term: Fulminant hepatitis
chpo_term: 暴发性肝炎
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:616564):
NOONAN SYNDROME 10
Noonan syndrome 10

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0010726
hpo_term: Prominent corneal nerve fibers
chpo_term: 角膜神经纤维突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度