221Takayasu Arteritis (TA) (高安氏症)
222Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
223TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)
224Tuberous Sclerosis Complex (TSC) (結節性硬化症)
225Usher Syndrome (尤塞氏綜合症)
226Verrucous Venous Malformation (VVM) (尤狀靜脈畸形症)
227Vitamin D-Resistant Rickets (抗維生素D性佝僂病)
228Vogt-Koyanagi-Harada Disease (VKH Disease) (原田氏病)
229von Hippel-Lindau Disease (VHL Disease) (希佩爾-林道病)
230Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
231Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
232Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
233WDR45 (Genetic Disorder)
234Wells Syndrome (韋爾斯綜合症)
235West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
236Williams Syndrome (WS) (威廉氏症候群)
237Wilson's Disease (WD) (威爾遜氏症)
238Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
239Wolfram Syndrome (Wolfram症候群)
240Worster-Drought Syndrome (WDS)