常染色体隐性遗传病(autosomal recessive disorder): 致病基因在常染色体上医学教育网搜集|整理,基因性状是隐性的,即只有纯合子时才显示病状。
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Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
结果:①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
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