247Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
248Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
249Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
250WDR45 (Genetic Disorder)
251Wells Syndrome (韋爾斯綜合症)
252West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
253Williams Syndrome (WS) (威廉氏症候群)
254Wilson's Disease (WD) (威爾遜氏症)
255Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
256Wolfram Syndrome (Wolfram症候群)
257Worster-Drought Syndrome (WDS)
258WWOX Syndrome (Genetic Disorder)