家族性低钾血症-低镁血症,Gitelman syndrome,Gitelman综合征; 低钾血症-低镁血症-低钙尿, Familial Hypokalemia-Hypomagnesemia, Hypomagnesemia-hypokalemia with hypocalciuria...
纯合子家族性高胆固醇血症,Homozygous Hypercholesterolemia,同合子家族性高胆固醇血症;纯合性家族性高胆固醇血症;Homozygous familial hypercholesterolemia,...
全羧化酶合成酶缺乏症,Holocarboxylase synthetase deficiency,HCSD...
β酮硫解酶缺乏症...