246Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
247Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
248Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
249WDR45 (Genetic Disorder)
250Wells Syndrome (韋爾斯綜合症)
251West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
252Williams Syndrome (WS) (威廉氏症候群)
253Wilson's Disease (WD) (威爾遜氏症)
254Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
255Wolfram Syndrome (Wolfram症候群)
256Worster-Drought Syndrome (WDS)
257WWOX Syndrome (Genetic Disorder)