多发性骨硬化性组织细胞增生症,Erdheim-Chester disease...
瓜氨酸血症,Citrullinemia...
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,...