TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:97292):
Cardiogenic shock

Associated phenotypes (HPO):
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0009805
hpo_term: Low-output congestive heart failure
chpo_term: 低输出型充血性心力衰竭
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0006670
hpo_term: Impaired myocardial contractility
chpo_term: 心肌收缩力受损
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0030851
hpo_term: Low pulse pressure
chpo_term: 脉压低
id: HP:0030876
hpo_term: Increased pulmonary capillary wedge pressure
chpo_term: 肺毛细血管楔压升高
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
Disease (ORPHA:34515):
LGMD type 2I
FKRP-related limb-girdle muscular dystrophy R9
LGMD due to FKRP deficiency
Limb-girdle muscular dystrophy due to FKRP deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2I
LGMD2I
FKRP-related LGMD R9
Limb-girdle muscular dystrophy type 2I

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:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0030099
hpo_term: Reduced muscle fiber alpha dystroglycan
chpo_term: 肌纤维α-肌营养不良蛋白聚糖减少
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0005109
hpo_term: Abnormality of the Achilles tendon
chpo_term: 跟腱的异常
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0030092
hpo_term: Reduced muscle fiber merosin
chpo_term: 肌纤维层粘连蛋白α2减少
Disease (ORPHA:97290):
PTC-RCC
Familial papillary thyroid carcinoma with renal papillary neoplasia

Associated phenotypes (HPO):
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0006735
hpo_term: Renal cortical adenoma
chpo_term: 肾皮质腺瘤
id: HP:0006766
hpo_term: Papillary renal cell carcinoma
chpo_term: 乳头状肾细胞癌
id: HP:0011798
hpo_term: Renal oncocytoma
chpo_term: 肾嗜酸粒细胞瘤
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:3000037
hpo_term: Abnormal neck blood vessel morphology
chpo_term: 颈部血管形态异常
Disease (ORPHA:90653):
Stickler syndrome type 1

Associated phenotypes (HPO):
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0100734
hpo_term: Abnormality of vertebral epiphysis morphology
chpo_term: 椎体骨骺形态异常
id: HP:6000015
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:2701):
Noonan syndrome-like disorder with loose anagen hair
NS/LAH
Mazzanti syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:90654):
Stickler syndrome type 2

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:6000015
Disease (ORPHA:438216):
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0006481
hpo_term: Abnormality of primary teeth
chpo_term: 乳牙异常
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0011081
hpo_term: Incisor macrodontia
chpo_term: 巨大切牙
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
Disease (ORPHA:2703):
Nova syndrome
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Associated phenotypes (HPO):
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002334
hpo_term: Abnormal cerebellar vermis morphology
chpo_term: 小脑蚓部形态异常
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0010733
hpo_term: Naevus flammeus of the eyelid
chpo_term: 眼睑鲜红斑痣
id: HP:0011427
hpo_term: Enlarged fetal cisterna magna
chpo_term: 胎儿小脑延髓池扩大
id: HP:0012157
hpo_term: Subcortical cerebral atrophy
chpo_term: 皮层下脑萎缩
id: HP:0100308
hpo_term: Cerebral cortical hemiatrophy
chpo_term: 大脑皮层偏侧萎缩
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:2704):
Partial facial palsy with urinary abnormalities
Urofacial syndrome
Ochoa facial syndrome
Inverted smile-neurogenic bladder syndrome
Hydronephrosis-inverted smile syndrome
Ochoa syndrome

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000796
hpo_term: Urethral obstruction
chpo_term: 尿道梗阻
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
Disease (ORPHA:90658):
Charcot-Marie-Tooth disease-hearing loss syndrome
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease-deafness syndrome
CMT1E

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
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:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0008962
hpo_term: Calf muscle hypoplasia
chpo_term: 小腿肌肉发育不良
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0010832
hpo_term: Abnormality of pain sensation
chpo_term: 痛觉异常
id: HP:0011727
hpo_term: Peroneal muscle weakness
chpo_term: 腓骨肌无力
id: HP:0012074
hpo_term: Tonic pupil
chpo_term: 瞳孔强直
id: HP:0012391
hpo_term: Hyporeflexia of upper limbs
chpo_term: 上肢反射减弱
id: HP:0030211
hpo_term: Slow pupillary light response
chpo_term: 瞳孔对光反应缓慢
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008124
hpo_term: Talipes calcaneovarus
chpo_term: 仰趾内翻足
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
Disease (ORPHA:2707):
Oculocerebrofacial syndrome, Kaufman type

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000159
hpo_term: Abnormal lip morphology
chpo_term: 唇形态异常
id: HP:0000177
hpo_term: Abnormality of upper lip
chpo_term: 上唇异常
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0001135
hpo_term: Chorioretinal dystrophy
chpo_term: 脉络膜视网膜营养不良
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
Disease (ORPHA:51083):
Congenital short QT syndrome
Familial short QT syndrome
SQTS

Associated phenotypes (HPO):
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
Disease (ORPHA:97289):
Thymic neuroendocrine tumor

Associated phenotypes (HPO):
id: HP:0100521
hpo_term: Neoplasm of the thymus
chpo_term: 胸腺肿瘤
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0005345
hpo_term: Abnormal vena cava morphology
chpo_term: 腔静脉形态异常
id: HP:0007457
hpo_term: Prominent veins on trunk
chpo_term: 主干静脉隆凸。
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030829
hpo_term: Abnormal breath sound
chpo_term: 异常呼吸音
id: HP:0100568
hpo_term: Neoplasm of the endocrine system
chpo_term: 内分泌系统的肿瘤
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0004724
hpo_term: Calcium nephrolithiasis
chpo_term: 钙性肾结石
id: HP:0006767
hpo_term: Pituitary prolactin cell adenoma
chpo_term: 垂体泌乳素腺瘤
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0008261
hpo_term: Pancreatic islet cell adenoma
chpo_term: 胰岛细胞腺瘤
id: HP:0011761
hpo_term: Pituitary null cell adenoma
chpo_term: 垂体裸细胞腺瘤
Disease (ORPHA:370103):
Primary dystonia, DYT17 type

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
Disease (ORPHA:90650):
OPD I syndrome
Taybi syndrome
Otopalatodigital syndrome type 1
OPD syndrome 1

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002738
hpo_term: Hypoplastic frontal sinuses
chpo_term: 额窦发育不全
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0001850
hpo_term: Abnormality of the tarsal bones
chpo_term: 跗骨异常
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005640
hpo_term: Abnormal vertebral segmentation and fusion
chpo_term: 椎体分节和融合异常
Disease (ORPHA:101081):
Charcot-Marie-Tooth disease type 1A
Microduplication 17p12
CMT1A

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
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:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0007131
hpo_term: Acute demyelinating polyneuropathy
chpo_term: 急性脱髓鞘性多发性神经病
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0010833
hpo_term: Spontaneous pain sensation
chpo_term: 自发性疼痛感
id: HP:0030834
hpo_term: Shoulder pain
chpo_term: 肩痛
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进