221Verrucous Venous Malformation (VVM) (尤狀靜脈畸形症)
222Vitamin D-Resistant Rickets (抗維生素D性佝僂病)
223Vogt-Koyanagi-Harada Disease (VKH Disease) (原田氏病)
224von Hippel-Lindau Disease (VHL Disease) (希佩爾-林道病)
225Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
226Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
227Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
228WDR45 (Genetic Disorder)
229Wells Syndrome (韋爾斯綜合症)
230West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
231Williams Syndrome (WS) (威廉氏症候群)
232Wilson's Disease (WD) (威爾森氏症)
233Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
234Wolfram Syndrome (Wolfram症候群)
235Worster-Drought Syndrome (WDS)
236WWOX Syndrome (Genetic Disorder)
237Xeroderma Pigmentosum (XP) (著色性乾皮症)
238X-linked Agammaglobulinemia (XLA) (X-連鎖無丙種球蛋白血症)
239X-linked Hypophosphatemic Rickets (XLH) (性聯遺傳型低磷酸鹽佝僂症)
240X-linked Myotubular Myopathy (XLMTM) (肌小管病變)