21-羟化酶缺乏症,21-Hydroxylase Deficiency,经典性先天性类脂性肾上腺皮质增生症,由21-羟化酶缺乏导致;Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency...
AL型淀粉样变性,AL amyloidosis,免疫球蛋白轻链淀粉样变性,AL...
常染色体显性遗传病合并皮质下梗死和白质脑病,CADASIL...
布-戴二氏贫血综合征,Blackfan-Diamond anemia,布-戴二氏贫血综合征, DBA, Diamond-Blckfan综合症, Diamond-Blackfan anemia, 先天性纯红血球再生障碍性贫血, 单纯红细胞再生障碍性贫血...