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疾病英文名:Adult Malignant Mesenchymoma 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:成人恶性间充质瘤。该病症中提到的药物有异环磷酰…
疾病英文名:Ureterolithiasis 疾病分类:非罕见病 肾脏类疾病 其他别名:Calculus of Ureter Ureteral Calculi Ureteric S…
疾病英文名:Congenital Bilateral Megacalycosis 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:先天性双侧巨肾囊肿,附属组织包括肾…
疾病英文名:Osteomalacia 疾病分类:罕见病 骨骼肌类疾病 肾脏类疾病 其他别名:Adult Rickets 疾病简介:骨软化症,也被称为成人软骨病,与雷恩综合症和成人低…
疾病英文名:Secondary Hyperparathyroidism of Renal Origin 疾病分类:非罕见病 内分泌类疾病 肾脏类疾病 其他别名:Hyperparat…
疾病英文名:Slc4a1-Associated Distal Renal Tubular Acidosis 疾病分类:罕见病 骨骼肌类疾病 肾脏类疾病 其他别名:Classic D…
疾病英文名:EMP8 - Progressive Myoclonus Epilepsy 8 疾病分类:罕见病 肾脏类疾病 神经精神疾病 其他别名:Progressive Myocl…
疾病英文名:Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance 疾病…
疾病英文名:Genetic Systemic Disease with Glomerulopathy As a Major Feature 疾病分类:罕见病 肾脏类疾病 其他别名:…
疾病英文名:SD - Salla Disease 疾病分类:罕见病 肾脏类疾病 神经精神疾病 其他别名:Sd Sialic Acid Storage Disease, Finnis…
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肾病综合征眼病,也称为家族性婴儿肾病综合征伴眼病,与假阴道阴囊尿道下裂和肾病综合征有关。 Nephrotic Syndrome Ocular Anomalies
Alpha-甲基乙酰乙酸尿,也称为β-酮硫醇酶缺乏症,与代谢性酸中毒和有机酸血症有关,症状包括婴儿期反复出现呕吐和呕吐的酮酸中毒发作。与Alpha-甲基乙酰乙酸尿有关的重要基因是ACAT1(乙酰辅酶A乙酰转移酶1),其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调节。附属组织包括大脑和骨髓,相关表型包括呕吐和发热。 3KTD – Alpha-Methylacetoacetic Aciduria
纤维-尺骨-桡骨发育不良或肾异常,也称为纤维-尺骨-桡骨发育不良-肾异常综合症。附属组织包括肾脏和心脏,相关表型为前额突出和鼻梁凹陷 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities
肾盂癌,又称为肾盂恶性肿瘤,与移行细胞癌和结肠良性肿瘤有关。与肾盂癌相关的重要基因是LINC00967(长内含非编码RNA 967),其相关通路/超级通路包括同源DNA配对和链交换和DNA修复通路,完整网络。在该疾病的背景下,已提到的药物有顺铂和贝伐单抗。附属组织包括肾脏和肺。 Renal Pelvis Carcinoma
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1, also known as hypophosphatemic nephrolithiasis/osteoporosis 1, is related to idiopathic infantile hypercalcemia and hypercalciuria, absorptive, 2. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways are Signaling by FGFR2 and Vitamin D receptor pathway. Affiliated tissues include kidney, and related phenotypes are osteopenia and hypophosphatemia. 翻译结果: Nephrolithiasis/osteoporosis, Hypophosphatemic, 1,也称为hypophosphatemic nephrolithiasis/osteoporosis 1,与idiopathic infantile hypercalcemia和hypercalciuria,absorptive,2有关。与Nephrolithiasis/osteoporosis, Hypophosphatemic, 1有关的重要基因是SLC34A1(Solute Carrier Family 34 Member 1),其相关通路/超级通路包括FGFR2信号通路和维生素D受体通路。附属组织包括肾脏,相关表型为骨质疏松和低磷血症。 NPHLOP1 – Nephrolithiasis/osteoporosis, Hypophosphatemic, 1