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中文Familial Hypercholanemia
Alias:
Hypercholanemia, Familial
Hereditary Hypercholanemia
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家族性高胆汁酸血症，也称为高胆汁酸血症，家族性，与高胆汁酸血症，家族性1和胆酸结合缺陷1有关。与家族性高胆汁酸血症有关的重要基因是BAAT（胆酸-乙酰辅酶A：氨基酸N-酰基转移酶），其相关通路/超级通路包括类固醇代谢和胆酸和胆盐的合成。附属组织包括肝脏，相关表型为发育不良和佝偻病
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