进行性骨干发育不良(progressive diaphyseal dysplasia)也称进行性骨干肥厚(progressive diaphyseal...[详细]
黏多糖病(muco polysaccharidosis,MPS)又称Brailsford综合征、Brailsford-Morquio综合征、硫酸角质尿...[详细]
视网膜色素变性-肥胖-多指综合征(Laurence-Moon-Biedl syndrome),又称Bardet-Biedl综合征、Biemond综合征...[详细]