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中文Cockayne Syndrome (CS)
Alias:
Cockayne's Syndrome
Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome
Cs
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Cockayne 综合症，又名Cockayne's 综合症，与Cockayne 综合症B和Cockayne 综合症A有关。与Cockayne 综合症相关的基因是ERCC6（ERCC切除修复6，染色质重塑因子），其相关通路/超级通路包括同源导向修复和转录耦联核酸切除修复（TC-NER）。在该疾病的背景下，已提到的药物有西罗莫司和山梨醇。附属组织包括眼睛和皮肤，相关表型为视网膜色素异常和生长延迟
Related ID：
MESH：D003057
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MALACARDS
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