TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3408):
Upington disease
Hip dysplasia-enchondromata-ecchondroma syndrome

Associated phenotypes (HPO):
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0010588
hpo_term: Premature epimetaphyseal fusion
chpo_term: 干骺端融合过早
id: HP:0030038
hpo_term: Enchondroma
chpo_term: 内生软骨瘤
Disease (ORPHA:3409):
Urban-Rogers-Meyer syndrome
Prader-Willi habitus-osteopenia-camptodactyly syndrome
Intellectual disability-short stature-hand contractures-genital anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000940
hpo_term: Abnormal diaphysis morphology
chpo_term: 骨干形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:40923):
Idiopathic retinal perivasculitis
Eales disease
Idiopathic retinal vasculitis

Associated phenotypes (HPO):
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0025188
hpo_term: Retinal vasculitis
chpo_term: 视网膜血管炎
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0007052
hpo_term: Multifocal cerebral white matter abnormalities
chpo_term: 多灶性脑白质异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007917
hpo_term: Tractional retinal detachment
chpo_term: 牵拉性视网膜脱离
id: HP:0011497
hpo_term: Iris neovascularization
chpo_term: 虹膜新生血管
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0012230
hpo_term: Rhegmatogenous retinal detachment
chpo_term: 孔源性视网膜脱离
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0030652
hpo_term: Vitreous haze
chpo_term: 玻璃体混浊
id: HP:0030667
hpo_term: Peripheral retinal neovascularization
chpo_term: 周边视网膜新生血管形成
id: HP:0030773
hpo_term: Internuclear ophthalmoplegia
chpo_term: 核间性眼肌瘫痪
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0025239
hpo_term: Subhyaloid hemorrhage
chpo_term: 玻璃体下出血
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
Disease (ORPHA:3400):
Aorto-ventricular tunnel

Associated phenotypes (HPO):
id: HP:0011627
hpo_term: Aorto-ventricular tunnel
chpo_term: 主动脉-心室隧道
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0006704
hpo_term: Abnormal coronary artery morphology
chpo_term: 冠状动脉形态异常
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
Disease (ORPHA:79124):
VODI syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome

Associated phenotypes (HPO):
id: HP:0003139
hpo_term: Panhypogammaglobulinemia
chpo_term: 全丙种球蛋白减少血症
id: HP:0030355
hpo_term: Abnormal serum interferon-gamma level
chpo_term: 血清干扰素-γ水平异常
id: HP:0011117
hpo_term: Abnormality of interleukin secretion
chpo_term: 白介素分泌异常
id: HP:0040088
hpo_term: Abnormal lymphocyte count
chpo_term: 淋巴细胞计数异常
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002743
hpo_term: Recurrent enteroviral infections
chpo_term: 反复肠病毒感染
id: HP:0002849
hpo_term: Absence of lymph node germinal center
chpo_term: 淋巴结生发中心缺失
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030374
hpo_term: Decreased proportion of memory B cells
chpo_term: 记忆性B细胞比例减低
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0031218
hpo_term: Inappropriate antidiuretic hormone secretion
chpo_term: 抗利尿激素分泌失衡
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0100626
hpo_term: Chronic hepatic failure
chpo_term: 慢性肝功能衰竭
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0040089
hpo_term: Abnormal natural killer cell count
chpo_term: 自然杀伤细胞数量异常
Disease (ORPHA:79126):
Acute interstitial pneumonitis
Hamman-Rich syndrome
Acute interstitial pneumonia

Associated phenotypes (HPO):
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025177
hpo_term: Peribronchovascular interstitial thickening
chpo_term: 支气管周围血管间质增厚
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0025393
hpo_term: Reticulonodular pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见网状结节状结构
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0031631
hpo_term: Subpleural honeycombing
chpo_term: 胸膜下蜂窝状结构
id: HP:0031851
hpo_term: Reduced hematocrit
chpo_term: 红细胞压积减低
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:3403):
Uhl anomaly

Associated phenotypes (HPO):
id: HP:0031316
hpo_term: Abnormal ventricular myocardium morphology
chpo_term: 心室心肌层形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0033138
hpo_term: Right atrial thrombus
chpo_term: 右房血栓
id: HP:0034330
hpo_term: Regional right ventricular hypokinesis
chpo_term: 局部右心室功能减退
id: HP:6000667
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0010882
hpo_term: Pulmonary valve atresia
chpo_term: 肺动脉瓣闭锁
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0034364
hpo_term: Fibrofatty replacement of right ventricular myocardium
chpo_term: 右心室心肌纤维脂肪置换
Disease (ORPHA:79127):
RB-ILD
Respiratory bronchiolitis-interstitial lung disease syndrome

Associated phenotypes (HPO):
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002207
hpo_term: Diffuse reticular or finely nodular infiltrations
chpo_term: 弥漫性网状或细结节状浸润
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0030877
hpo_term: Reduced FEV1/FVC ratio
chpo_term: 1秒率下降
id: HP:0031996
hpo_term: Inspiratory crackles
chpo_term: 吸气性爆裂音
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
id: HP:0006516
hpo_term: Hypersensitivity pneumonitis
chpo_term: 过敏性肺炎
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0025175
hpo_term: Honeycomb lung
chpo_term: 蜂窝状肺
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:79106):
Eiken syndrome

Associated phenotypes (HPO):
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0006376
hpo_term: Limited elbow flexion
chpo_term: 屈肘受限
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001211
hpo_term: Abnormal fingertip morphology
chpo_term: 指尖形态异常
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0003170
hpo_term: Abnormal acetabulum morphology
chpo_term: 髋臼形态异常
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0008808
hpo_term: High iliac wing
chpo_term: 高髂骨翼
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0100671
hpo_term: Abnormal trabecular bone morphology
chpo_term: 骨小梁形态异常
Disease (ORPHA:79107):
Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0008796
hpo_term: Femoral retroversion
chpo_term: 股骨后倾
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
Disease (ORPHA:36899):
Alcohol-responsive dystonia
Myoclonic dystonia
Hereditary essential myoclonus
Myoclonus-dystonia syndrome

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0010531
hpo_term: Spinal myoclonus
chpo_term: 脊髓性肌阵挛
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0012075
hpo_term: Personality disorder
chpo_term: 人格障碍
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
Disease (ORPHA:325345):
46,XY ovotesticular disorder of sex development
46,XY ovotesticular DSD
46,XY ovotesticular difference of sex development

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000056
hpo_term: Abnormality of the clitoris
chpo_term: 阴蒂异常
id: HP:0000058
hpo_term: Abnormal labia morphology
chpo_term: 阴唇形态异常
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000063
hpo_term: Fused labia minora
chpo_term: 小阴唇融合
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0001197
hpo_term: Abnormality of prenatal development or birth
chpo_term: 胎儿产前发育或出生异常
id: HP:0010459
hpo_term: True hermaphroditism
chpo_term: 真两性畸形
id: HP:0010460
hpo_term: Abnormality of the female genitalia
chpo_term: 女性生殖器官异常
id: HP:0010461
hpo_term: Abnormality of the male genitalia
chpo_term: 男性生殖器异常
id: HP:0012244
hpo_term: Abnormal sex determination
chpo_term: 性别决定异常
id: HP:0030258
hpo_term: Hyperpigmented genitalia
chpo_term: 生殖器色素沉着过度
id: HP:0012861
hpo_term: Ovotestis
chpo_term: 卵睾（两性生殖腺）
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:93405):
Syndactyly type 4
Polysyndactyly, Haas type

Associated phenotypes (HPO):
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001501
hpo_term: 6 metacarpals
chpo_term: 6块掌骨
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0010708
hpo_term: 1-5 finger syndactyly
chpo_term: 第一-五指并指
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1698):
Trisomy 12 mosaicism
Mosaic trisomy chromosome 12
Mosaic trisomy 12 syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:6000010
Disease (ORPHA:93406):
Syndactyly type 5
Postaxial syndactyly with metacarpal synostosis
SD5

Associated phenotypes (HPO):
id: HP:0001440
hpo_term: Metatarsal synostosis
chpo_term: 跖骨骨性融合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0006097
hpo_term: 3-4 finger syndactyly
chpo_term: 第三-四指并指
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:93403):
Synpolydactyly
Syndactyly type 2

Associated phenotypes (HPO):
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0006097
hpo_term: 3-4 finger syndactyly
chpo_term: 第三-四指并指
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
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:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0100260
hpo_term: Mesoaxial polydactyly
chpo_term: 中轴多指（趾）
Disease (ORPHA:1695):
Non-distal trisomy 10q
Non-telomeric trisomy 10q
Non-distal duplication 10q syndrome

Associated phenotypes (HPO):
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
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:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:93404):
Syndactyly type 3
Syndactyly of fingers 4 and 5
SD3

Associated phenotypes (HPO):
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:93409):
Brachydactyly-syndactyly, Zhao type

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0004704
hpo_term: Short fifth metatarsal
chpo_term: 第五跖骨过短
id: HP:0009577
hpo_term: Short middle phalanx of the 2nd finger
chpo_term: 第二指中节短指骨
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
Disease (ORPHA:140896):
SARS-1
Severe acute respiratory syndrome
SARS

Associated phenotypes (HPO):
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
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:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0011949
hpo_term: Acute infectious pneumonia
chpo_term: 急性感染性肺炎
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤