TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:602200):
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
Ventriculomegaly with defects of the radius and kidney

Associated phenotypes (HPO):
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0003956
hpo_term: Bowed forearm bones
chpo_term: 前臂骨弯曲
id: HP:0009821
hpo_term: Forearm undergrowth
chpo_term: 前臂发育不良
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:612775):
CONE-ROD DYSTROPHY 9
Cone-Rod dystrophy 9

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
Disease (OMIM:603678):
DEAFNESS, AUTOSOMAL RECESSIVE 14
Deafness, autosomal recessive 14

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:604117):
VOHWINKEL SYNDROME, VARIANT FORM
Vohwinkel syndrome, variant form

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0007465
hpo_term: Honeycomb palmoplantar hyperkeratosis
chpo_term: 蜂窝状掌跖角化
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
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:157700):
Mitral valve prolapse 1
MITRAL VALVE PROLAPSE 1

Associated phenotypes (HPO):
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0008433
hpo_term: Reversed usual vertebral column curves
chpo_term: 脊柱反向弯曲
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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
Disease (OMIM:613443):
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20

Associated phenotypes (HPO):
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: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:0003196
hpo_term: Short nose
chpo_term: 短鼻
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:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
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
Disease (OMIM:308280):
Impacted teeth, multiple
IMPACTED TEETH, MULTIPLE

Associated phenotypes (HPO):
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
Disease (OMIM:620089):
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0033407
hpo_term: Elevated urine acetoacetic acid level
chpo_term: 尿乙酰乙酸水平升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0410309
hpo_term: Alpha-aminoadipic aciduria
chpo_term: α-氨基己二酸尿症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
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:0034008
hpo_term: Opto-chiasmatic atrophy
chpo_term: 视交叉萎缩
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
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:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:619608):
HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY
Heterotaxy, visceral, 11, autosomal, with male infertility

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0010445
hpo_term: Primum atrial septal defect
chpo_term: 原发孔型房间隔缺损
id: HP:0011577
hpo_term: Partial atrioventricular canal defect
chpo_term: 部分房室管缺损
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0031590
hpo_term: Asthenopia
chpo_term: 视疲劳
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
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
Disease (OMIM:300804):
Joubert syndrome 10
JOUBERT SYNDROME 10

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0025161
hpo_term: Frequent temper tantrums
chpo_term: 频繁发脾气
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:253290):
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Multiple pterygium syndrome, Lethal type

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0005905
hpo_term: Abnormal cervical curvature
chpo_term: 颈椎曲度异常
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001961
hpo_term: Hypoplastic heart
chpo_term: 心脏发育不全
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001040
hpo_term: Multiple pterygia
chpo_term: 多发翼状胬肉
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
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:0003634
hpo_term: Amyoplasia
chpo_term: 广泛肌肉发育不良
Disease (OMIM:617143):
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
Myasthenic syndrome, congenital, 20, presynaptic

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
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:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
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:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:618270):
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
Congenital anomalies of kidney and urinary tract 3

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
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:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
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:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:613325):
RHABDOID TUMOR PREDISPOSITION SYNDROME 2
Rhabdoid tumor predisposition syndrome 2

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034401
hpo_term: Atypical teratoid/rhabdoid tumor
chpo_term: 非典型畸胎瘤样/横纹肌样瘤
id: HP:0034402
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:277440):
VITAMIN D-DEPENDENT RICKETS, TYPE 2A
Rickets, vitamin D-resistant, type IIA

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0003013
hpo_term: Bulging epiphyses
chpo_term: 骨骺凸出
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0003106
hpo_term: Subperiosteal bone resorption
chpo_term: 骨膜下骨质吸收
id: HP:0003029
hpo_term: Enlargement of the ankles
chpo_term: 脚踝膨大
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0002752
hpo_term: Sparse bone trabeculae
chpo_term: 骨小梁稀疏
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0000893
hpo_term: Bulging of the costochondral junction
chpo_term: 肋软骨交界处隆起
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0003020
hpo_term: Enlargement of the wrists
chpo_term: 手腕膨大
id: HP:0004492
hpo_term: Widely patent fontanelles and sutures
chpo_term: 前囟及颅缝宽大
id: HP:0031415
hpo_term: High serum calcitriol
chpo_term: 血清骨化三醇增高
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000867
hpo_term: Secondary hyperparathyroidism
chpo_term: 继发性甲状旁腺功能亢进症
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0000886
hpo_term: Deformed rib cage
chpo_term: 胸廓变形
Disease (OMIM:616249):
Long QT syndrome 15
LONG QT SYNDROME 15

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0030682
hpo_term: Left ventricular noncompaction
chpo_term: 左心室心肌致密化不全
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0034306
hpo_term: Ventricular bigeminy
chpo_term: 室性二联律
id: HP:0031677
hpo_term: Polymorphic ventricular tachycardia
chpo_term: 多形性室性心动过速
id: HP:0034305
hpo_term: 2:1 atrioventricular block
chpo_term: 2∶1的房室传导阻滞
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:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:618264):
Mirror movements 4
MIRROR MOVEMENTS 4

Associated phenotypes (HPO):
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:265050):
3MC syndrome 2
3MC SYNDROME 2

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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002678
hpo_term: Skull asymmetry
chpo_term: 头骨不对称
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
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:0010759
hpo_term: Prominence of the premaxilla
chpo_term: 前颌骨突出
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005243
hpo_term: Partial abdominal muscle agenesis
chpo_term: 局部腹肌发育不全
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002825
hpo_term: Caudal appendage
chpo_term: 尾部附属物
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:615026):
RIBOFLAVIN DEFICIENCY
Riboflavin deficiency

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0100504
hpo_term: Low levels of vitamin B2
chpo_term: 维生素B2缺乏症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0045045
hpo_term: Elevated circulating acylcarnitine concentration
chpo_term: 血浆酰基肉碱水平升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒