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中文Sturge-Weber Syndrome (SWS)
Alias:
Sws
Encephalotrigeminal Angiomatosis
Sturge-Weber-Dimitri Syndrome
Sturge-Weber-Krabbe Syndrome
Sturge-Weber-Krabbe Angiomatosis
Encephalofacial Angiomatosis
Sturge-Weber Syndrome, Somatic, Mosaic
Meningofacial Angiomatosis-Cerebral Calcification Syndrome
Angiomatosis Aculoorbital-Thalamic Syndrome
Encephalofacial Hemangiomatosis Syndrome
Meningo-Oculo-Facial Angiomatosis
Meningeal Capillary Angiomatosis
Angiomatosis Encephalotrigeminal
Encephalofacial Hemangiomatosis
Weber-Sturge-Dimitri Syndrome
Leptomeningeal Angiomatosis
Phakomatosis, Sturge-Weber
Neuroretinoangiomatosis
Fourth Phacomatosis
Phacomatosis Fourth
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Sturge-Weber Syndrome（SWS），又称斯图尔格-韦伯综合症，是一种与半侧巨脑症和先天性毛细血管畸形有关的疾病。与Sturge-Weber Syndrome相关的基因是GNAQ（G蛋白亚基αQ），其相关通路/超级通路包括ERK信号通路和信号转导通路。在该疾病的背景下，已提到的药物有Temsirolimus和Sirolimus。相关组织包括眼睛和皮肤，相关表型包括癫痫和毛细血管瘤。
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