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罕见病

胎儿包裹综合征，也被称为茧状病，与肠梗阻和腹膜炎有关，症状包括晨吐。与胎儿包裹综合征相关的重要基因是CHUK（抑制核因子κB激酶复合物的组成部分），其相关通路/超级通路包括TNFR1通路和子宫内膜癌通路。在该疾病的背景下，已提到的药物有左乙拉司坦和益智药。附属组织包括皮肤和肺，相关表型包括马蹄肾和法洛四联症。 COCOS – Fetal Encasement Syndrome

胎儿包裹综合征，也被称为茧状病，与肠梗阻和腹膜炎有关，症状包括晨吐。与胎儿包裹综合征相关的重要基因是CHUK（抑制核因子κB激酶复合物的组成部分），其相关通路/超级通路包括TNFR1通路和子宫内膜癌通路。在该疾病的背景下，已提到的药物有左乙拉司坦和益智药。附属组织包括皮肤和肺，相关表型包括马蹄肾和法洛四联症。 COCOS – Fetal Encasement Syndrome

疾病英文名：COCOS - Fetal Encasement Syndrome 疾病分类：罕见病 骨骼肌类疾病 致命性疾病 其他别名：Cocoon Syndrome Fetal D…

常染色体隐性遗传
2023-11-10 834
自闭症6，也被称为自闭症易感性6，与自闭症X连锁6和自闭症有关。与自闭症6相关的基因是AUTS6（自闭症易感性6）。相关组织包括大脑。 AUTS6 – Autism 6

自闭症6，也被称为自闭症易感性6，与自闭症X连锁6和自闭症有关。与自闭症6相关的基因是AUTS6（自闭症易感性6）。相关组织包括大脑。 AUTS6 – Autism 6

疾病英文名：AUTS6 - Autism 6 疾病分类：罕见病 眼科疾病 神经精神疾病 其他别名：Autism, Susceptibility to, 6 Autism Susce…

眼科疾病
2023-11-10 781
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
2023-11-10 845
Joubert 综合征 10，也称为 jbts10，与 orofaciodigital 综合征 I 和黄斑区的孔有关。与 Joubert 综合征 10 有关的重要基因是 OFD1（OFD1 中心体和中心体卫星蛋白），其相关通路/超级通路包括细胞器生物发生和维护以及 Bardet-Biedl 综合征。附属组织包括小脑和大脑，相关表型包括巨脑和智力障碍。 JBTS10 – Joubert Syndrome 10

Joubert 综合征 10，也称为 jbts10，与 orofaciodigital 综合征 I 和黄斑区的孔有关。与 Joubert 综合征 10 有关的重要基因是 OFD1（OFD1 中心体和中心体卫星蛋白），其相关通路/超级通路包括细胞器生物发生和维护以及 Bardet-Biedl 综合征。附属组织包括小脑和大脑，相关表型包括巨脑和智力障碍。 JBTS10 – Joubert Syndrome 10

疾病英文名：JBTS10 - Joubert Syndrome 10 疾病分类：罕见病 眼科疾病 致命性疾病 其他别名：Jbts10 Joubert Syndrome, Type …

X染色体隐性遗传
2023-11-10 817
脊髓性肌萎缩伴有下肢优势2b，也称为脊髓性肌萎缩伴有下肢优势2b。 Spinal Muscular Atrophy with Lower Extremity Predominant 2b

脊髓性肌萎缩伴有下肢优势2b，也称为脊髓性肌萎缩伴有下肢优势2b。 Spinal Muscular Atrophy with Lower Extremity Predominant 2b

疾病英文名：Spinal Muscular Atrophy with Lower Extremity Predominant 2b 疾病分类：罕见病 骨骼肌类疾病 神经精神疾病 其…

神经精神疾病
2023-11-10 682
N-糖基化蛋白质紊乱与先天性糖基化紊乱有关，类型为先天性糖基化紊乱。 Disorder of Protein N-Glycosylation

N-糖基化蛋白质紊乱与先天性糖基化紊乱有关，类型为先天性糖基化紊乱。 Disorder of Protein N-Glycosylation

疾病英文名：Disorder of Protein N-Glycosylation 疾病分类：罕见病 内分泌类疾病 其他别名： 疾病简介：N-糖基化蛋白质紊乱与先天性糖基化紊乱有关…

内分泌类疾病
2023-11-10 1,062
脑膜炎，也被称为由新型隐球菌引起的真菌性脑膜炎，与脑膜炎球菌性脑膜炎和结核性脑膜炎有关，其症状包括震颤、发热和背痛。与脑膜炎相关的基因是CRP（C反应蛋白），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，已经提到了阿莫西林B和地塞米松醋酸盐。附属组织包括脊髓和大脑，相关表型是稳态/代谢和心血管系统。 Meningitis

脑膜炎，也被称为由新型隐球菌引起的真菌性脑膜炎，与脑膜炎球菌性脑膜炎和结核性脑膜炎有关，其症状包括震颤、发热和背痛。与脑膜炎相关的基因是CRP（C反应蛋白），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，已经提到了阿莫西林B和地塞米松醋酸盐。附属组织包括脊髓和大脑，相关表型是稳态/代谢和心血管系统。 Meningitis

疾病英文名：Meningitis 疾病分类：罕见病 免疫系统疾病 感染性疾病 其他别名：Fungal Meningitis Due to Cryptococcus Neoforma…

免疫系统疾病
2023-11-10 1,048
麦克道尔-温特综合症，也称为麦克道尔-温特综合症。附属组织包括皮肤，相关表型为癫痫和全球发育延迟 Macdermot-Winter Syndrome

麦克道尔-温特综合症，也称为麦克道尔-温特综合症。附属组织包括皮肤，相关表型为癫痫和全球发育延迟 Macdermot-Winter Syndrome

疾病英文名：Macdermot-Winter Syndrome 疾病分类：罕见病 致命性疾病 神经精神疾病 其他别名：Mac Dermot Winter Syndrome Prom…

常染色体隐性遗传
2023-11-10 768
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
2023-11-10 1,068
牙瘤与牙源性腺样瘤和颅咽管瘤有关。与牙瘤相关的基因是LHX8（LIM Homeobox 8），其相关通路/超通路包括神经系统发育和角化。附属组织包括骨和甲状腺，相关表型包括shRNA丰度增加（Z-score > 2）和生长/大小/身体部位。 Odontoma

牙瘤与牙源性腺样瘤和颅咽管瘤有关。与牙瘤相关的基因是LHX8（LIM Homeobox 8），其相关通路/超通路包括神经系统发育和角化。附属组织包括骨和甲状腺，相关表型包括shRNA丰度增加（Z-score > 2）和生长/大小/身体部位。 Odontoma

疾病英文名：Odontoma 疾病分类：罕见病 其他别名： 疾病简介：牙瘤与牙源性腺样瘤和颅咽管瘤有关。与牙瘤相关的基因是LHX8（LIM Homeobox 8），其相关通路/超通…

罕见病
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