212Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
213Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
214Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
215WDR45 (Genetic Disorder)
216Wells Syndrome (韋爾斯綜合症)
217West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
218Williams Syndrome (WS) (威廉氏症候群)
219Wilson's Disease (WD) (威爾森氏症)
220Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
221Wolfram Syndrome (Wolfram症候群)
222Worster-Drought Syndrome (WDS)
223WWOX Syndrome (Genetic Disorder)