201SCN1A Syndrome (Genetic Disorder)
202SCN2A Syndrome (Genetic Disorder)
203SCN4A Myopathy (Genetic Disorder)
204SCN8A Syndrome (Genetic Disorder)
205Short Bowel Syndrome (短腸症)
206Sialidosis Type 1 (涎酸酵素缺乏症第1型)
207Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
208Spastic Paraplegia (遺傳性痙攣性下肢麻痺)
209Spina Bifida (SB) (先天性脊椎裂症)
210Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
211Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
212Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
213Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
214Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
215Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
216Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
217Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
218Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
219Stiff Person Syndrome (SPS) (僵硬人症侯群)
220Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)