201Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
202Spina Bifida (SB) (先天性脊椎裂症)
203Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
204Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
205Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
206Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
207Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
208Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
209Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
210Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
211Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
212Stiff Person Syndrome (SPS) (僵硬人症侯群)
213Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
214Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
215Symbrachydactyly (先天手差異)
216Takayasu Arteritis (TA) (高安氏症)
217Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
218TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)
219Tuberous Sclerosis Complex (TSC) (結節性硬化症)
220Usher Syndrome (尤塞氏綜合症)