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疾病英文名:CDI - Central Diabetes Insipidus 疾病分类:罕见病 内分泌类疾病 肾脏类疾病 其他别名:Neurogenic Diabetes Insi…
疾病英文名:MYODRIF - Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficienc…
疾病英文名:Hereditary Distal Renal Tubular Acidosis 疾病分类:罕见病 肾脏类疾病 其他别名:Classic Renal Tubular A…
疾病英文名:Kidney Papillary Necrosis 疾病分类:非罕见病 肾脏类疾病 其他别名:Necrotizing Renal Papillitis Renal Pa…
疾病英文名:Bladder 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:Clear Cell Adenocarcino…
疾病英文名:Tubulocystic 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:肾小管囊性细胞癌与肾细胞癌、非乳头状…
疾病英文名:Hematological Disorder with Renal Involvement 疾病分类:罕见病 血液系统疾病 肾脏类疾病 其他别名: 疾病简介:有肾病参与…
疾病英文名:Nephrogenic Adenoma of the Urethra 疾病分类:非罕见病 肿瘤类疾病 肾脏类疾病 其他别名:Nephrogenic Adenoma of…
疾病英文名:SLSN1 - Senior-Loken Syndrome 1 疾病分类:罕见病 眼科疾病 肾脏类疾病 其他别名:Senior-Loken Syndrome Renal…
疾病英文名:GBD3 - Gallbladder Disease 3 疾病分类:罕见病 肝脏类疾病 肾脏类疾病 其他别名:Gallbladder Disease, Type 3 G…
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Gitelman-Like肾小管病由于线粒体DNA突变,也称为Gitelman-Like肾小管病由于mtDNA突变,与肌阵挛性癫痫伴粗糙红纤维和线粒体疾病有关。与Gitelman-Like肾小管病由于线粒体DNA突变有关的重要基因是MT-TF(线粒体编码的精氨酸(UUU/C)转运RNA)。附属组织包括肾脏。 Gitelman-Like Kidney Tubulopathy Due to Mitochondrial Dna Mutation
Nephrogenic Systemic Fibrosis, also known as nephrogenic fibrosing dermopathy, is related to scleroderma, familial progressive and chronic kidney disease, and has symptoms including pruritus and exanthema. An important gene associated with Nephrogenic Systemic Fibrosis is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are ERK Signaling and MIF Mediated Glucocorticoid Regulation. The drugs Pharmaceutical Solutions and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related phenotypes are homeostasis/metabolism and growth/size/body region. NFD – Nephrogenic Systemic Fibrosis
Pax6相关的Aniridia与Wilms瘤、无虹膜症、泌尿生殖系统异常以及智力发育障碍和无虹膜症1型有关。相关组织包括大脑和松果体。 Pax6-Related Aniridia
5-氟尿嘧中毒,也称为5-氟尿嘧中毒。相关组织包括结肠。 5-Fluorouracil Poisoning
早发性进行性脑病伴迁移性持续肌阵挛与迁移性局灶性危机和脑病有关。 Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus