TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:162500):
Neuropathy, hereditary, with liability to pressure palsies
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003481
hpo_term: Segmental peripheral demyelination/remyelination
chpo_term: 节段性神经末梢脱髓鞘/髓鞘再生
id: HP:0033660
hpo_term: Hand paresthesia
chpo_term: 手感觉异常
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0032121
hpo_term: Froment sign
chpo_term: Froment征
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:306980):
HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY
Hirschsprung disease with type D brachydactyly

Associated phenotypes (HPO):
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0005627
hpo_term: Type D brachydactyly
chpo_term: D型短指
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
Disease (OMIM:166000):
Enchondromatosis, multiple
ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE

Associated phenotypes (HPO):
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0006765
hpo_term: Chondrosarcoma
chpo_term: 软骨肉瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0005701
hpo_term: Multiple enchondromatosis
chpo_term: 多发性内生软骨瘤
Disease (OMIM:614815):
JOUBERT SYNDROME 18
Joubert syndrome 18

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0034044
hpo_term: Trident pelvis
chpo_term: 三叉戟骨盆
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0005248
hpo_term: Intrahepatic biliary atresia
chpo_term: 肝内胆道闭锁
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (OMIM:218200):
Cranial nerves, recurrent paresis of
CRANIAL NERVES, RECURRENT PARESIS OF

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0007250
hpo_term: Recurrent external ophthalmoplegia
chpo_term: 复发性眼外肌麻痹
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
Disease (OMIM:255300):
BATTEN-TURNER CONGENITAL MYOPATHY
Myopathy, congenital

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:580000):
DEAFNESS, AMINOGLYCOSIDE-INDUCED
Deafness, aminoglycoside-induced

Associated phenotypes (HPO):
id: HP:0011975
hpo_term: Aminoglycoside-induced hearing loss
chpo_term: 氨基糖甙类抗生素引起的听力损失
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
Disease (OMIM:620568):
Cornelia de Lange syndrome 6
CORNELIA DE LANGE SYNDROME 6

Associated phenotypes (HPO):
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:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0000913
hpo_term: Posterior rib fusion
chpo_term: 肋骨后端融合
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000675
hpo_term: Macrodontia of permanent maxillary central incisor
chpo_term: 上颌恒中切牙巨齿
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002236
hpo_term: Frontal upsweep of hair
chpo_term: 前额卷发
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0012167
hpo_term: Hair-pulling
chpo_term: 拔毛癖
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:251600):
Microphthalmia, isolated 1
MICROPHTHALMIA, ISOLATED 1

Associated phenotypes (HPO):
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
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:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:614424):
JOUBERT SYNDROME 14
Joubert syndrome 14

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0025514
hpo_term: Morning glory anomaly
chpo_term: 牵牛花样视盘发育异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:148100):
KELOIDS
KELOID FORMATION

Associated phenotypes (HPO):
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609313):
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0033643
hpo_term: Increased circulating very long-chain fatty acid concentration
chpo_term: 循环极长链脂肪酸浓度增加
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
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:185600):
SYMPHALANGISM OF TOES
Symphalangism of toes

Associated phenotypes (HPO):
id: HP:0100235
hpo_term: Synostosis involving bones of the toes
chpo_term: 累及趾骨的骨性连合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607458):
Spinocerebellar ataxia 18
SPINOCEREBELLAR ATAXIA 18

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
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:618578):
Myopathy, congenital, progressive, with scoliosis
MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS

Associated phenotypes (HPO):
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0012585
hpo_term: Renal atrophy
chpo_term: 肾萎缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:614342):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30
Mental retardation, autosomal recessive 30

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:220210):
RITSCHER-SCHINZEL SYNDROME 1
Ritscher-Schinzel syndrome 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
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:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
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:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
Disease (OMIM:604145):
Cardiomyopathy, dilated, 1G
CARDIOMYOPATHY, DILATED, 1G

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: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:0006699
hpo_term: Premature atrial contractions
chpo_term: 房性早搏
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:155145):
CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
Cleft, median, of upper lip with polyps of facial skin and nasal mucosa

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
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:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006866
hpo_term: Midline central nervous system lipomas
chpo_term: 中线中枢神经系统脂肪瘤
Disease (OMIM:615048):
SPINAL MUSCULAR ATROPHY, JOKELA TYPE
Spinal muscular atrophy, Jokela type

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:619672):
Spermatogenic failure 61
SPERMATOGENIC FAILURE 61

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
id: HP:0031039
hpo_term: Early spermatogenesis maturation arrest
chpo_term: 早期生精阻滞
Disease (OMIM:232600):
Glycogen storage disease V
GLYCOGEN STORAGE DISEASE V

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: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:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:6000320
id: HP:6000358
id: HP:6000526
id: HP:0009045
hpo_term: Exercise-induced rhabdomyolysis
chpo_term: 运动诱发的横纹肌溶解
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040319
hpo_term: Dark urine
chpo_term: 深色尿液
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:620795):
AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
Autoinflammation with episodic fever and immune dysregulation

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0410295
hpo_term: Complete or near-complete absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗完全或几乎全无特异性抗体应答
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011850
hpo_term: Parotitis
chpo_term: 腮腺炎
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症