Disease (ORPHA:324):
Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001014
hpo_term: Angiokeratoma
chpo_term: 血管角皮瘤
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004343
hpo_term: Abnormal glycosphingolipid metabolism
chpo_term: 鞘糖脂代谢异常
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033595
hpo_term: Elevated circulating globotriaosylceramide concentration
chpo_term: 循环中神经酰胺三己糖苷浓度升高
id: HP:0034864
id: HP:0100579
hpo_term: Mucosal telangiectasiae
chpo_term: 粘膜毛细血管扩张
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011710
hpo_term: Bundle branch block
chpo_term: 束支传导阻滞
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0500008
hpo_term: Cornea verticillata
chpo_term: 角膜涡状营养不良
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0004306
hpo_term: Abnormal endocardium morphology
chpo_term: 心内膜形态异常
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症