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