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疾病英文名:Chromosome 8q12.1-Q21.2 Deletion Syndrome 疾病分类:罕见病 肾脏类疾病 其他别名:Bor-Duane Hydrocephalu…
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汉曼综合症,又称非神经性神经性膀胱功能障碍,与主动脉瘤、家族性腹部、1和阿迪瞳孔有关。附属组织包括大脑和肾脏,相关表型为便秘和大便失禁 HS – Hinman Syndrome
Nephrogenic Diabetes Insipidus, also known as vasopressin-resistant diabetes insipidus, is related to diabetes insipidus, nephrogenic, 2, autosomal and x-linked nephrogenic diabetes insipidus. An important gene associated with Nephrogenic Diabetes Insipidus is AVPR2 (Arginine Vasopressin Receptor 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuroscience. The drugs Amiloride and Diuretics, Potassium Sparing have been mentioned in the context of this disorder. Affiliated tissues include kidney and pituitary, and related phenotypes are nephrogenic diabetes insipidus and hyposthenuria. NDI – Nephrogenic Diabetes Insipidus
良性肾小管间质瘤附属组织包括肾脏。 Benign Metanephric Tumor
椎体、心脏、肾和肢体缺陷综合症3,也称为vcrl3,与先天性椎体-心脏-肾异常综合症和椎体、心脏、肾和肢体缺陷综合症1有关。与椎体、心脏、肾和肢体缺陷综合症3有关的重要基因是NADSYN1(NAD合成酶1)。附属组织包括皮质和心脏,相关表型包括二尖瓣瓣膜和左心室发育不全。 VCRL3 – Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3
白细胞尿,也称为尿液中的脓细胞,与尿路感染和肾盂肾炎有关,症状包括泌尿生殖系统症状。与白细胞尿相关的基因是C反应蛋白(CRP),其相关通路/超级通路包括胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)的运输和摄取的调节以及SARS-CoV-2通过额外毛囊激活的B细胞。在该疾病的背景下提到了蔓越莓。附属组织包括前列腺和脊髓,相关表型是免疫系统。 Pyuria