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疾病英文名:PCLD2 - Polycystic Liver Disease 2 with or Without Kidney Cysts 疾病分类:非罕见病 肝脏类疾病 肾脏类疾…
疾病英文名:Renal Wilms' Tumor 疾病分类:非罕见病 肿瘤类疾病 肾脏类疾病 其他别名:Nonanaplastic Renal Wilm's Tumour Nona…
疾病英文名:Congenital Primary Megaureter, Refluxing Form 疾病分类:罕见病 致命性疾病 肾脏类疾病 其他别名: 疾病简介:先天性原发性…
疾病英文名:Clear Cell Papillary Renal Cell Carcinoma 疾病分类:罕见病 肿瘤类疾病 肾脏类疾病 其他别名: 疾病简介:透明细胞乳头状肾细胞…
疾病英文名:Chronic Hepatic Porphyria 疾病分类:罕见病 肝脏类疾病 肾脏类疾病 其他别名: 疾病简介:慢性肝性紫质症与皮肤迟发性紫质症和紫质症有关。关联组…
疾病英文名:Bladder Tubulo-Cystic Clear Cell Adenocarcinoma 疾病分类:非罕见病 肿瘤类疾病 肾脏类疾病 其他别名: 疾病简介:膀胱管…
疾病英文名:Uremia 疾病分类:非罕见病 肾脏类疾病 其他别名:Uremia of Renal Origin 疾病简介:尿毒症,也称为肾源性尿毒症,与甲状旁腺功能亢进和继发性甲…
疾病英文名:Kidney Rhabdoid Cancer 疾病分类:非罕见病 肿瘤类疾病 肾脏类疾病 其他别名:Rhabdoid Tumor of the Kidney Kidne…
疾病英文名:Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 疾病分类:罕见病 致命性疾病 肾脏类疾病 其…
疾病英文名:DDD - C3 Glomerulopathy 疾病分类:罕见病 肾脏类疾病 呼吸道疾病 其他别名:C3 Glomerulonephritis Non-Immunogl…
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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
黑色素瘤,皮肤恶性7,也被称为黑色素瘤,皮肤恶性,易感性,7。与黑色素瘤,皮肤恶性7有关的重要基因是CMM7(黑色素瘤,皮肤恶性,易感性,7)。附属组织包括皮肤。 CMM7 – Melanoma, Cutaneous Malignant 7
尿路结石与肾结石、尿酸和输尿管结石有关。与尿路结石相关的基因是APRT(腺苷磷酸核糖转移酶),其相关通路/超级通路包括无机离子/酸和氨基酸/寡肽的运输以及胰岛素样生长因子(IGF)的运输和摄取的调节由胰岛素样生长因子结合蛋白(IGFBPs)介导。在该疾病的背景下,已经提到了Febuxostat和Sildenafil这两种药物。附属组织包括肾脏和骨骼,相关表型包括稳态/代谢和肾/尿系统。 Urolithiasis
先天性原发性巨大输尿管,梗阻型 Congenital Primary Megaureter, Obstructed Form
肾小管转运障碍,也称为肾小管转运、遗传性错误,与范康综合症和肾病1型有关。与肾小管转运障碍相关的基因是SLC12A3(溶质载体家族12成员3),其相关通路/超通路包括无机离子/酸的转运和氨基酸/寡肽和离子通道转运。相关表型是肾/尿系统和稳态/代谢。 Renal Tubular Transport Disease