先天性侏儒痴呆综合征(congenital dwarfism dementia syndrome)又称Noonan综合征、Noonan-Ehmke综合...[详细]
多发性内分泌腺瘤综合征(multiple endocrine neoplasia syndrome ,MENS)是一组有明显家族倾向的显性遗传性疾病,...[详细]
继发性甲状旁腺功能亢进症(secondary hyperparathyroidism,SHPT,简称继发性甲旁亢),是指在慢性肾功能不全、肠吸收不良综...[详细]
眼-耳-脊椎综合征(oculoauriculovertebraldysplasiasyndrome)又称耳-脊椎综合征(auriculovertebr...[详细]