221Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
222Stiff Person Syndrome (SPS) (僵硬人症侯群)
223Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
224Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
225Symbrachydactyly (先天手差異)
226Takayasu Arteritis (TA) (高安氏症)
227Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
228TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)
229Tuberous Sclerosis Complex (TSC) (結節性硬化症)
230Usher Syndrome (尤塞氏綜合症)
231Verrucous Venous Malformation (VVM) (尤狀靜脈畸形症)
232Vitamin D-Resistant Rickets (抗維生素D性佝僂病)
233Vogt-Koyanagi-Harada Disease (VKH Disease) (原田氏病)
234von Hippel-Lindau Disease (VHL Disease) (希佩爾-林道病)
235Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
236Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
237Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
238WDR45 (Genetic Disorder)
239Wells Syndrome (韋爾斯綜合症)
240West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)