inherited coagulation disorder性凝血因子的疾病
inherited blooding disorder遗传性出血疾患
Inherited disorder bilirubin metabolism遗传性胆红素代谢紊乱
Congenital or Inherited Disorder先天性或遗传性失调
inherited disorder thyroid metabolism遗传性甲状腺代谢性病症
Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism. Early diagnosis is important since it can be effectively treated if diagnosis can be made in early life.
肝豆状核变性是一种以铜代谢障碍为特征的常染色体隐性遗传病，早期干预有效，因此早期诊断对疾病的预后有重要意义。
参考来源 - 串联重复ASO探针的构建及其在肝豆状核变性诊断中的应用