201Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
202Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
203Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
204Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
205Stiff Person Syndrome (SPS) (僵硬人症侯群)
206Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
207Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
208Symbrachydactyly (先天手差異)
209Takayasu Arteritis (TA) (高安氏症)
210Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
211TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)
212Tuberous Sclerosis Complex (TSC) (結節性硬化症)
213Usher Syndrome (尤塞氏綜合症)
214Verrucous Venous Malformation (VVM) (尤狀靜脈畸形症)
215Vitamin D-Resistant Rickets (抗維生素D性佝僂病)
216Vogt-Koyanagi-Harada Disease (VKH Disease) (原田氏病)
217von Hippel-Lindau Disease (VHL Disease) (希佩爾-林道病)
218Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
219Waldenstrom's Macroglobulinemia (WM) (華氏巨頭蛋白血症)
220Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)