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中文Autosomal Dominant Alport Syndrome
Alias:
Alport Syndrome, Autosomal Dominant
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常染色体显性阿尔波特综合症，也称为阿尔波特综合症，常染色体显性，与阿尔波特综合症3a，常染色体显性和阿尔波特综合症2，常染色体隐性有关。与常染色体显性阿尔波特综合症相关的重要基因是COL4A3（IV型胶原α3链），其相关通路/超级通路包括ERK信号通路和整合素通路。相关组织包括眼睛和肾脏，相关表型为肾/尿系统和细胞
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MALACARDS
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