TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:608673):
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
Charcot-Marie-Tooth disease, axonal, type 2L

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:176690):
PROGEROID SHORT STATURE WITH PIGMENTED NEVI
Progeroid short stature with pigmented nevi

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0007879
hpo_term: Allergic conjunctivitis
chpo_term: 过敏性结膜炎
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0040079
hpo_term: Irregular dentition
chpo_term: 牙列不规则
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0005101
hpo_term: High-frequency hearing impairment
chpo_term: 高频听力障碍
id: HP:0005320
hpo_term: Lack of facial subcutaneous fat
chpo_term: 面部皮下脂肪缺乏
id: HP:0004791
hpo_term: Esophageal ulceration
chpo_term: 食管溃疡
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (DECIPHER:38):
Pelizaeus-Merzbacher disease

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
Disease (OMIM:144150):
Hyperkeratosis lenticularis perstans
HYPERKERATOSIS LENTICULARIS PERSTANS

Associated phenotypes (HPO):
id: HP:0007570
hpo_term: Hyperkeratosis lenticularis perstans
chpo_term: 持久性豆状角化过度病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:164280):
FEINGOLD SYNDROME 1
Feingold syndrome 1

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0011611
hpo_term: Interrupted aortic arch
chpo_term: 主动脉弓断离
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002589
hpo_term: Gastrointestinal atresia
chpo_term: 消化道闭锁
Disease (OMIM:607554):
Atrial fibrillation, familial, 3
ATRIAL FIBRILLATION, FAMILIAL, 3

Associated phenotypes (HPO):
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
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:0001727
hpo_term: Thromboembolic stroke
chpo_term: 血栓栓塞性脑卒中
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:245590):
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0006527
hpo_term: Lymphocytic interstitial pneumonia
chpo_term: 淋巴细胞性间质性肺炎
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
Disease (OMIM:109050):
AUROCEPHALOSYNDACTYLY
Auralcephalosyndactyly

Associated phenotypes (HPO):
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616459):
Al-Raqad syndrome
AL-RAQAD SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:609579):
Familial scaphocephaly syndrome, Mcgillivray type
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:156232):
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
Mesomelic dysplasia, Kantaputra type

Associated phenotypes (HPO):
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617021):
Hydrops, lactic acidosis, and sideroblastic anemia
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
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
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0025671
hpo_term: Fetal pericardial effusion
chpo_term: 胎儿心包积液
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:618312):
Diamond-Blackfan anemia 19
DIAMOND-BLACKFAN ANEMIA 19

Associated phenotypes (HPO):
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0033074
hpo_term: Steroid-responsive anemia
chpo_term: 激素反应性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:140450):
HEART-HAND SYNDROME, SPANISH TYPE
Heart-hand syndrome, Spanish type

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0011704
hpo_term: Sick sinus syndrome
chpo_term: 病窦综合征
id: HP:0009464
hpo_term: Ulnar deviation of the 2nd finger
chpo_term: 第二指向尺侧偏斜
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:137800):
GLIOMA SUSCEPTIBILITY 1
Glioma susceptibility 1

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:241090):
Hypogonadism, primary, and partial alopecia
HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA

Associated phenotypes (HPO):
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
Disease (OMIM:615636):
JOUBERT SYNDROME 21
Joubert syndrome 21

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
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:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
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:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0011933
hpo_term: Elongated superior cerebellar peduncle
chpo_term: 小脑上脚延长
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0034302
hpo_term: Megalopapilla
chpo_term: 巨大视乳头
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0009932
hpo_term: Single naris
chpo_term: 单鼻孔
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:619024):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
Combined oxidative phosphorylation deficiency 49

Associated phenotypes (HPO):
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
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:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0008314
hpo_term: Decreased activity of mitochondrial complex II
chpo_term: 线粒体复合物II活性降低
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:614500):
Cone-Rod dystrophy 16
CONE-ROD DYSTROPHY 16

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0025147
hpo_term: Beaten bronze macular sheen
chpo_term: 黄斑金属样光泽
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:145500):
HYPERTENSION, ESSENTIAL
Hypertension, essential

Associated phenotypes (HPO):
id: HP:0005117
hpo_term: Elevated diastolic blood pressure
chpo_term: 舒张压升高
id: HP:0004972
hpo_term: Elevated mean arterial pressure
chpo_term: 平均动脉压升高
id: HP:0004421
hpo_term: Elevated systolic blood pressure
chpo_term: 收缩压升高
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
Disease (OMIM:614266):
Barrett esophagus
BARRETT ESOPHAGUS

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0004791
hpo_term: Esophageal ulceration
chpo_term: 食管溃疡
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0100580
hpo_term: Barrett esophagus
chpo_term: Barrett食管
id: HP:0011459
hpo_term: Esophageal carcinoma
chpo_term: 食管癌
Disease (OMIM:613509):
CHROMOSOME 4q21 DELETION SYNDROME
Chromosome 4q21 deletion syndrome

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
Disease (OMIM:619742):
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
Charcot-Marie-Tooth disease, demyelinating, type 1I

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031058
hpo_term: Impairment of activities of daily living
chpo_term: 日常生活活动障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
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:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:616471):
BETHLEM MYOPATHY 2
Bethlem myopathy 2

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: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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0020152
hpo_term: Distal joint laxity
chpo_term: 远端关节松弛
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
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:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大