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呼吸道疾病

基底细胞癌7，也称为基底细胞癌易感性7，与弓形虫病有关。与基底细胞癌7有关的一个重要基因是TP53（肿瘤蛋白P53）。附属组织包括皮肤。 BCC7 – Basal Cell Carcinoma 7

基底细胞癌7，也称为基底细胞癌易感性7，与弓形虫病有关。与基底细胞癌7有关的一个重要基因是TP53（肿瘤蛋白P53）。附属组织包括皮肤。 BCC7 – Basal Cell Carcinoma 7

疾病英文名：BCC7 - Basal Cell Carcinoma 7 疾病分类：罕见病 肿瘤类疾病 呼吸道疾病 其他别名：Basal Cell Carcinoma, Suscep…

呼吸道疾病
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过敏性鼻炎，又称为花粉症，与慢性鼻炎和花粉过敏有关，症状包括耳鸣、流鼻涕和打鼾。与过敏性鼻炎相关的基因是IL13（白介素13），其相关通路/超级通路包括先天免疫系统和MIF介导的糖皮质激素调节。在该疾病的背景下，提到了药物赛洛美唑啉和德洛拉特定。附属组织包括皮肤和眼睛，相关表型是稳态/代谢和免疫系统。 ALRH – Allergic Rhinitis

过敏性鼻炎，又称为花粉症，与慢性鼻炎和花粉过敏有关，症状包括耳鸣、流鼻涕和打鼾。与过敏性鼻炎相关的基因是IL13（白介素13），其相关通路/超级通路包括先天免疫系统和MIF介导的糖皮质激素调节。在该疾病的背景下，提到了药物赛洛美唑啉和德洛拉特定。附属组织包括皮肤和眼睛，相关表型是稳态/代谢和免疫系统。 ALRH – Allergic Rhinitis

疾病英文名：ALRH - Allergic Rhinitis 疾病分类：非罕见病 免疫系统疾病 呼吸道疾病 其他别名：Hay Fever Allergic Rhinitis, Su…

免疫系统疾病
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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
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复合氧化磷酸化缺陷13，也称为coxpd13，与复合氧化磷酸化缺陷和线粒体DNA耗竭综合症有关。与复合氧化磷酸化缺陷13有关的重要基因是PNPT1（多核糖核苷酸核苷转移酶1）。附属组织包括眼睛和大脑，相关表型是增加的血清乳酸和线粒体呼吸链缺陷。 COXPD13 – Combined Oxidative Phosphorylation Deficiency 13

复合氧化磷酸化缺陷13，也称为coxpd13，与复合氧化磷酸化缺陷和线粒体DNA耗竭综合症有关。与复合氧化磷酸化缺陷13有关的重要基因是PNPT1（多核糖核苷酸核苷转移酶1）。附属组织包括眼睛和大脑，相关表型是增加的血清乳酸和线粒体呼吸链缺陷。 COXPD13 – Combined Oxidative Phosphorylation Deficiency 13

疾病英文名：COXPD13 - Combined Oxidative Phosphorylation Deficiency 13 疾病分类：罕见病 神经精神疾病 呼吸道疾病 其他别…

呼吸道疾病
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石墨尘肺病，又称石墨肺纤维化，与尘肺病和石墨病有关。附属组织包括肺。 Graphite Pneumoconiosis

石墨尘肺病，又称石墨肺纤维化，与尘肺病和石墨病有关。附属组织包括肺。 Graphite Pneumoconiosis

疾病英文名：Graphite Pneumoconiosis 疾病分类：罕见病 呼吸道疾病 其他别名：Graphite Fibrosis of Lung Fibrosis of Lu…

呼吸道疾病
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肺癌易感性5，也称为lncr5。与肺癌易感性5有关的重要基因是LNCR5（肺癌易感性5）。附属组织包括肺。 LNCR5 – Lung Cancer Susceptibility 5

肺癌易感性5，也称为lncr5。与肺癌易感性5有关的重要基因是LNCR5（肺癌易感性5）。附属组织包括肺。 LNCR5 – Lung Cancer Susceptibility 5

疾病英文名：LNCR5 - Lung Cancer Susceptibility 5 疾病分类：罕见病 肿瘤类疾病 呼吸道疾病 其他别名：Lncr5 疾病简介：肺癌易感性5，也称为…

呼吸道疾病
2023-11-10 800
喉癌，又称为喉癌，与喉部良性肿瘤和喉鳞状细胞癌有关。与喉癌相关的重要基因是MIR21（微小RNA 21），其相关通路/超通路包括恶性胸膜间皮瘤和DNA损伤。在该疾病的背景下提到了尼古丁酰和多西他赛。附属组织包括淋巴结和肺，相关表型为肿瘤。 Larynx Cancer

喉癌，又称为喉癌，与喉部良性肿瘤和喉鳞状细胞癌有关。与喉癌相关的重要基因是MIR21（微小RNA 21），其相关通路/超通路包括恶性胸膜间皮瘤和DNA损伤。在该疾病的背景下提到了尼古丁酰和多西他赛。附属组织包括淋巴结和肺，相关表型为肿瘤。 Larynx Cancer

疾病英文名：Larynx Cancer 疾病分类：罕见病 肿瘤类疾病 呼吸道疾病 其他别名：Laryngeal Carcinoma Laryngeal Cancer Maligna…

呼吸道疾病
2023-11-10 1,125
3型家族性发作性疼痛综合征，也称为主要涉及下肢的家族性发作性疼痛综合征，与家族性发作性疼痛综合征和热性惊厥有关。与3型家族性发作性疼痛综合征相关的基因是SCN11A（钠电压门控通道α亚基11），其相关通路/超级通路包括神经系统发育和激活cAMP依赖性PKA。附属组织包括周围神经，相关表型包括自主神经系统生理异常和疼痛。 FEPS3 – Episodic Pain Syndrome, Familial, 3

3型家族性发作性疼痛综合征，也称为主要涉及下肢的家族性发作性疼痛综合征，与家族性发作性疼痛综合征和热性惊厥有关。与3型家族性发作性疼痛综合征相关的基因是SCN11A（钠电压门控通道α亚基11），其相关通路/超级通路包括神经系统发育和激活cAMP依赖性PKA。附属组织包括周围神经，相关表型包括自主神经系统生理异常和疼痛。 FEPS3 – Episodic Pain Syndrome, Familial, 3

疾病英文名：FEPS3 - Episodic Pain Syndrome, Familial, 3 疾病分类：罕见病 神经精神疾病 呼吸道疾病 其他别名：Familial Epis…

呼吸道疾病
2023-11-10 1,032
声门下良性肿瘤，又称为声门下肿瘤，与会厌癌和声门上肿瘤有关。与声门下良性肿瘤相关的重要基因是PDPN（Podoplanin），其相关通路/超级通路包括PKMTs甲基化组蛋白赖氨酸。附属组织包括气管和喉部的声门下区域。 Subglottis Benign Neoplasm

声门下良性肿瘤，又称为声门下肿瘤，与会厌癌和声门上肿瘤有关。与声门下良性肿瘤相关的重要基因是PDPN（Podoplanin），其相关通路/超级通路包括PKMTs甲基化组蛋白赖氨酸。附属组织包括气管和喉部的声门下区域。 Subglottis Benign Neoplasm

疾病英文名：Subglottis Benign Neoplasm 疾病分类：非罕见病 肿瘤类疾病 呼吸道疾病 其他别名：Subglottic Tumor 疾病简介：声门下良性肿瘤，…

呼吸道疾病
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儿童期系统性疾病特异性间质性肺病，也称为儿童期系统性疾病特异性间质性肺病。附属组织包括肺。 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease

儿童期系统性疾病特异性间质性肺病，也称为儿童期系统性疾病特异性间质性肺病。附属组织包括肺。 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease

疾病英文名：Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic…

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