219Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
220Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
221Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
222WDR45 (Genetic Disorder)
223Wells Syndrome (韋爾斯綜合症)
224West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
225Williams Syndrome (WS) (威廉氏症候群)
226Wilson's Disease (WD) (威爾森氏症)
227Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
228Wolfram Syndrome (Wolfram症候群)
229Worster-Drought Syndrome (WDS)
230WWOX Syndrome (Genetic Disorder)