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心血管疾病

长QT综合征15，也称为lqt15，与长QT综合征14和飞行恐惧症有关。与长QT综合征15有关的重要基因是CALM2（钙调蛋白2），其相关通路/超级通路包括cAMP依赖性PKA的激活和嗅觉信号通路。附属组织包括心脏和心房，相关表型为癫痫和晕厥。 LQT15 – Long Qt Syndrome 15

长QT综合征15，也称为lqt15，与长QT综合征14和飞行恐惧症有关。与长QT综合征15有关的重要基因是CALM2（钙调蛋白2），其相关通路/超级通路包括cAMP依赖性PKA的激活和嗅觉信号通路。附属组织包括心脏和心房，相关表型为癫痫和晕厥。 LQT15 – Long Qt Syndrome 15

疾病英文名：LQT15 - Long Qt Syndrome 15 疾病分类：罕见病 血液系统疾病 心血管疾病 其他别名：Lqt15 Long Qt Syndrome, Type …

常染色体显性遗传
2023-11-10 545
Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include atrioventricular node and heart, and related phenotypes are sudden cardiac death and syncope. Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include atrioventricular node and heart, and related phenotypes are sudden cardiac death and syncope. Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include atrioventricular node and heart, and related phenotypes are sudden cardiac death and syncope. Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with WPW – Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include atrioventricular node and heart, and related phenotypes are sudden cardiac death and syncope. Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include atrioventricular node and heart, and related phenotypes are sudden cardiac death and syncope. Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include atrioventricular node and heart, and related phenotypes are sudden cardiac death and syncope. Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with WPW – Wolff-Parkinson-White Syndrome

疾病英文名：WPW - Wolff-Parkinson-White Syndrome 疾病分类：罕见病 心血管疾病 呼吸道疾病 其他别名：Wolff-Parkinson-White…

呼吸道疾病
2023-11-10 817
Hadziselimovic 综合征，也被称为小头-面心骨骼综合症。相关组织包括心脏和骨骼，相关表型包括脑桥小体发育不全和智力障碍 Hadziselimovic Syndrome

Hadziselimovic 综合征，也被称为小头-面心骨骼综合症。相关组织包括心脏和骨骼，相关表型包括脑桥小体发育不全和智力障碍 Hadziselimovic Syndrome

疾病英文名：Hadziselimovic Syndrome 疾病分类：罕见病 骨骼肌类疾病 心血管疾病 其他别名：Microcephaly-Faciocardioskeletal …

常染色体隐性遗传
2023-11-10 1,086
猫眼病18，又称猫眼病，常染色体隐性先天性2，与猫眼病和早发性核性白内障有关。与猫眼病18有关的重要基因是FYCO1（FYVE和卷曲螺旋域自噬适应蛋白1）。附属组织包括眼睛，相关表型为核性白内障。 CTRCT18 – Cataract 18

猫眼病18，又称猫眼病，常染色体隐性先天性2，与猫眼病和早发性核性白内障有关。与猫眼病18有关的重要基因是FYCO1（FYVE和卷曲螺旋域自噬适应蛋白1）。附属组织包括眼睛，相关表型为核性白内障。 CTRCT18 – Cataract 18

疾病英文名：CTRCT18 - Cataract 18 疾病分类：罕见病 心血管疾病 眼科疾病 其他别名：Cataract, Autosomal Recessive Congeni…

常染色体隐性遗传
2023-11-10 420
Goodpasture 综合征，也被称为抗基底膜病，与肺出血性铁锈症和快速进展性肾小球肾炎有关。与 Goodpasture 综合征相关的一个重要基因是 COL4A3（IV 型胶原α3链），与其相关的途径/超级途径包括细胞外基质组织和 ECM 蛋白聚糖。在该疾病的背景下，已经提到了环磷酰胺和抗体。附属组织包括肾脏和肺，相关表型包括呼吸功能不全和蛋白尿。 Goodpasture Syndrome

Goodpasture 综合征，也被称为抗基底膜病，与肺出血性铁锈症和快速进展性肾小球肾炎有关。与 Goodpasture 综合征相关的一个重要基因是 COL4A3（IV 型胶原α3链），与其相关的途径/超级途径包括细胞外基质组织和 ECM 蛋白聚糖。在该疾病的背景下，已经提到了环磷酰胺和抗体。附属组织包括肾脏和肺，相关表型包括呼吸功能不全和蛋白尿。 Goodpasture Syndrome

疾病英文名：Goodpasture Syndrome 疾病分类：罕见病 骨骼肌类疾病 心血管疾病 其他别名：Anti-Glomerular Basement Membrane Di…

常染色体隐性遗传
2023-11-10 780
常染色体隐性非综合征性聋70，也称为聋，常染色体隐性70，与聋，常染色体隐性70有关，伴有或不伴有成人神经退行性和聋，常染色体隐性25。与常染色体隐性非综合征性聋70有关的重要基因是PNPT1（多核糖核苷酸核苷转移酶1）。相关表型是神经系统和听觉/前庭/耳 Autosomal Recessive Nonsyndromic Deafness 70

常染色体隐性非综合征性聋70，也称为聋，常染色体隐性70，与聋，常染色体隐性70有关，伴有或不伴有成人神经退行性和聋，常染色体隐性25。与常染色体隐性非综合征性聋70有关的重要基因是PNPT1（多核糖核苷酸核苷转移酶1）。相关表型是神经系统和听觉/前庭/耳 Autosomal Recessive Nonsyndromic Deafness 70

疾病英文名：Autosomal Recessive Nonsyndromic Deafness 70 疾病分类：罕见病 心血管疾病 其它疾病 其他别名：Deafness, Auto…

其它疾病
2023-11-10 664
先天性聋，常染色体隐性1b型，也被称为dfnb1b，与先天性聋，常染色体显性1a型和先天性聋，常染色体显性3a型有关。与先天性聋，常染色体隐性1b型有关的重要基因是GJB6（间隙连接蛋白β6），其相关通路/超级通路包括嗅觉信号通路和间隙连接转运。相关组织包括大脑和皮肤，相关表型包括前庭功能障碍和听力障碍。 DFNB1B – Deafness, Autosomal Recessive 1b

先天性聋，常染色体隐性1b型，也被称为dfnb1b，与先天性聋，常染色体显性1a型和先天性聋，常染色体显性3a型有关。与先天性聋，常染色体隐性1b型有关的重要基因是GJB6（间隙连接蛋白β6），其相关通路/超级通路包括嗅觉信号通路和间隙连接转运。相关组织包括大脑和皮肤，相关表型包括前庭功能障碍和听力障碍。 DFNB1B – Deafness, Autosomal Recessive 1b

疾病英文名：DFNB1B - Deafness, Autosomal Recessive 1b 疾病分类：罕见病 心血管疾病 其它疾病 其他别名：Dfnb1b Autosomal …

其它疾病
2023-11-10 919
扩张型心肌病1aa，伴有或不伴有左心室非对称性肥大，也称为扩张型心肌病1aa。与扩张型心肌病1aa，伴有或不伴有左心室非对称性肥大相关的基因是ACTN2（肌动蛋白α2）。相关组织包括心脏和心室，相关表型包括房室传导阻滞和左心室肥大。 CMD1AA – Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction

扩张型心肌病1aa，伴有或不伴有左心室非对称性肥大，也称为扩张型心肌病1aa。与扩张型心肌病1aa，伴有或不伴有左心室非对称性肥大相关的基因是ACTN2（肌动蛋白α2）。相关组织包括心脏和心室，相关表型包括房室传导阻滞和左心室肥大。 CMD1AA – Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction

疾病英文名：CMD1AA - Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompactio…

常染色体显性遗传
2023-11-10 996
腹主动脉瘤，家族性腹部型3，也称为腹主动脉瘤，家族性腹部型3，与腹主动脉瘤，家族性腹部型1和脑回发育不全1有关。与腹主动脉瘤，家族性腹部型3有关的重要基因是AAA3（腹主动脉瘤，家族性腹部型3）。 AAA3 – Aortic Aneurysm, Familial Abdominal, 3

腹主动脉瘤，家族性腹部型3，也称为腹主动脉瘤，家族性腹部型3，与腹主动脉瘤，家族性腹部型1和脑回发育不全1有关。与腹主动脉瘤，家族性腹部型3有关的重要基因是AAA3（腹主动脉瘤，家族性腹部型3）。 AAA3 – Aortic Aneurysm, Familial Abdominal, 3

疾病英文名：AAA3 - Aortic Aneurysm, Familial Abdominal, 3 疾病分类：罕见病 血液系统疾病 心血管疾病 其他别名：Aneurysm, F…

心血管疾病
2023-11-10 258
前侧壁心肌梗死，又称前壁心肌梗死，与急性前侧壁心肌梗死和左束支半阻滞有关。与前侧壁心肌梗死相关的重要基因是NPPB（Natriuretic Peptide B），其相关通路/超级通路包括NO/cGMP/PKG介导的神经保护和A-beta斑块形成和APP代谢。在该疾病的背景下，已提到的药物有阿托伐他汀和西门汀。附属组织包括骨髓和心脏。 Anterolateral Myocardial Infarction

前侧壁心肌梗死，又称前壁心肌梗死，与急性前侧壁心肌梗死和左束支半阻滞有关。与前侧壁心肌梗死相关的重要基因是NPPB（Natriuretic Peptide B），其相关通路/超级通路包括NO/cGMP/PKG介导的神经保护和A-beta斑块形成和APP代谢。在该疾病的背景下，已提到的药物有阿托伐他汀和西门汀。附属组织包括骨髓和心脏。 Anterolateral Myocardial Infarction

疾病英文名：Anterolateral Myocardial Infarction 疾病分类：非罕见病 心血管疾病 其他别名：Anterior Wall Myocardial In…

心血管疾病
2023-11-10 593
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