TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:761):
Purpura rheumatica
Henoch-Schönlein purpura
Rheumatoid purpura
Immunoglobulin A vasculitis
IgA vasculitis
Anaphylactoid purpura

Associated phenotypes (HPO):
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0100796
hpo_term: Orchitis
chpo_term: 睾丸炎
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100534
hpo_term: Episcleritis
chpo_term: 巩膜外层炎
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:760):
Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency

Associated phenotypes (HPO):
id: HP:0002843
hpo_term: Abnormal T cell morphology
chpo_term: T细胞形态异常
id: HP:0011935
hpo_term: Decreased urinary urate
chpo_term: 尿液中尿酸盐减少
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0005363
hpo_term: Humoral immunodeficiency
chpo_term: 体液免疫缺陷
id: HP:0032166
hpo_term: Unusual gastrointestinal infection
chpo_term: 非寻常胃肠道感染
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0011442
hpo_term: Abnormal central motor function
chpo_term: 中枢性运动功能异常
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
Disease (ORPHA:436003):
5q23 microdeletion syndrome
Contractures-developmental delay-Pierre Robin syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002687
hpo_term: Abnormality of frontal sinus
chpo_term: 额窦异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
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:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009929
hpo_term: Abnormality of the columella
chpo_term: 鼻小柱异常
id: HP:0025100
hpo_term: Abnormal hippocampus morphology
chpo_term: 海马形态异常
Disease (ORPHA:66529):
Takotsubo syndrome
Apical ballooning syndrome
Transient left ventricular apical ballooning syndrome
Tako-Tsubo cardiomyopathy
Broken heart syndrome
Takotsubo cardiomyopathy
Stress cardiomyopathy
Ampulla cardiomyopathy
Ballooning cardiomyopathy
Tako-Tsubo syndrome

Associated phenotypes (HPO):
id: HP:0012663
hpo_term: Mildly reduced left ventricular ejection fraction
chpo_term: 左心室射血分数轻度降低
id: HP:0010872
hpo_term: T-wave inversion
chpo_term: T波倒置
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0031483
hpo_term: Reduced contraction of the left ventricular apex
chpo_term: 左室心尖收缩变缓
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0410174
hpo_term: Increased circulating troponin T concentration
chpo_term: 循环肌钙蛋白T浓度升高
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0006698
hpo_term: Dilatation of the ventricular cavity
chpo_term: 心室腔扩张
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
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:0012250
hpo_term: ST segment depression
chpo_term: ST段压低
id: HP:0025077
hpo_term: Decreased QRS voltage
chpo_term: QRS低电压
id: HP:0031138
hpo_term: Abnormal B-type natriuretic peptide level
chpo_term: B型钠尿肽水平异常
id: HP:6001073
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001727
hpo_term: Thromboembolic stroke
chpo_term: 血栓栓塞性脑卒中
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0005145
hpo_term: Coronary artery stenosis
chpo_term: 冠状动脉狭窄
id: HP:0006704
hpo_term: Abnormal coronary artery morphology
chpo_term: 冠状动脉形态异常
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
Disease (ORPHA:758):
Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE

Associated phenotypes (HPO):
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001102
hpo_term: Angioid streaks of the fundus
chpo_term: 眼底血管样条纹
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0004417
hpo_term: Intermittent claudication
chpo_term: 间歇性跛行
id: HP:0025473
hpo_term: Hyperpigmented papule
chpo_term: 色素沉着性丘疹
id: HP:0033027
hpo_term: Retinal peau d'orange
chpo_term: 视网膜橘皮样损害
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0004306
hpo_term: Abnormal endocardium morphology
chpo_term: 心内膜形态异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0012508
hpo_term: Metamorphopsia
chpo_term: 视物变形
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
Disease (ORPHA:757):
Hyperkalemia-hypertension syndrome, Gordon type
PHA2
PHAII
Spitzer-Weinstein syndrome
Hypertensive hyperkalemia
Familial hyperkalemic hypertension
Mineralocorticoid resistant hyperkalemia
Chloride shunt syndrome
Pseudohypoaldosteronism type 2
Gordon hyperkalemia-hypertension syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0003768
hpo_term: Periodic paralysis
chpo_term: 周期性麻痹
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:206546):
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Associated phenotypes (HPO):
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001435
hpo_term: Abnormality of the shoulder girdle musculature
chpo_term: 肩胛带肌肉异常
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0030097
hpo_term: Absent muscle dystrophin expression
chpo_term: 抗肌萎缩蛋白表达缺乏
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
Disease (ORPHA:99429):
Complete androgen resistance syndrome
CAIS
Complete androgen insensitivity syndrome

Associated phenotypes (HPO):
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008655
hpo_term: Aplasia/Hypoplasia of the fallopian tube
chpo_term: 输卵管发育不全/发育不良
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0012888
hpo_term: Abnormal uterine cervix morphology
chpo_term: 宫颈形态异常
id: HP:0025134
hpo_term: Increased serum estradiol
chpo_term: 血清雌二醇增多
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0040314
hpo_term: Blind vagina
chpo_term: 盲端阴道
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0031102
hpo_term: Increased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平升高
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0030346
hpo_term: Abnormal circulating follicle-stimulating hormone concentration
chpo_term: 循环促卵泡激素浓度异常
id: HP:0100728
hpo_term: Germ cell neoplasia
chpo_term: 生殖细胞瘤
Disease (ORPHA:753):
Steroid 5-alpha-reductase 2 deficiency
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
46,XY DSD due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
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:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:55881):
Adamantinoma
Adamantinoma of long bones

Associated phenotypes (HPO):
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
Disease (ORPHA:206549):
Anoctamin-5-related LGMD R12
Limb-girdle muscular dystrophy type 2L
Anoctamin-5-related limb-girdle muscular dystrophy R12
Autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD2L
LGMD type 2L

Associated phenotypes (HPO):
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001430
hpo_term: Abnormality of the calf musculature
chpo_term: 小腿肌肉异常
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003482
hpo_term: EMG: axonal abnormality
chpo_term: 肌电图：轴突异常
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003730
hpo_term: EMG: myotonic runs
chpo_term: 强直型肌电图波
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0008988
hpo_term: Pelvic girdle muscle atrophy
chpo_term: 骨盆带肌萎缩
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009050
hpo_term: Quadriceps muscle atrophy
chpo_term: 股四头肌肌肉萎缩
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0031237
hpo_term: Internally nucleated skeletal muscle fibers
chpo_term: 骨骼肌纤维中细胞核内聚
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
Disease (ORPHA:755):
46,XY DSD due to LH resistance or LHB deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
Leydig cell hypoplasia
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

Associated phenotypes (HPO):
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000118
hpo_term: Phenotypic abnormality
chpo_term: 表型异常
id: HP:0000134
hpo_term: Female hypogonadism
chpo_term: 女性性腺功能减退症
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0000812
hpo_term: Abnormal internal genitalia
chpo_term: 内生殖器异常
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:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0010790
hpo_term: Hyoplasia of the Leydig cells
chpo_term: 睾丸间质细胞发育不全
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0000030
hpo_term: Testicular gonadoblastoma
chpo_term: 睾丸性腺母细胞瘤
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0012872
hpo_term: Abnormal vas deferens morphology
chpo_term: 输精管形态异常
Disease (ORPHA:166024):
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia, Al-Gazali type

Associated phenotypes (HPO):
id: HP:0000207
hpo_term: Triangular mouth
chpo_term: 三角嘴
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0031092
hpo_term: Spindle-shaped finger
chpo_term: 梭状指
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常