221Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
222Symbrachydactyly (先天手差異)
223Takayasu Arteritis (TA) (高安氏症)
224Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
225TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)
226Tuberous Sclerosis Complex (TSC) (結節性硬化症)
227Usher Syndrome (尤塞氏綜合症)
228Verrucous Venous Malformation (VVM) (尤狀靜脈畸形症)
229Vitamin D-Resistant Rickets (抗維生素D性佝僂病)
230Vogt-Koyanagi-Harada Disease (VKH Disease) (原田氏病)
231von Hippel-Lindau Disease (VHL Disease) (希佩爾-林道病)
232Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
233Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
234Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
235WDR45 (Genetic Disorder)
236Wells Syndrome (韋爾斯綜合症)
237West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
238Williams Syndrome (WS) (威廉氏症候群)
239Wilson's Disease (WD) (威爾遜氏症)
240Wolf-Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)