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