201Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
202Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
203SCN1A Syndrome (Genetic Disorder)
204SCN2A Syndrome (Genetic Disorder)
205SCN4A Myopathy (Genetic Disorder)
206SCN8A Syndrome (Genetic Disorder)
207Short Bowel Syndrome (短腸症)
208Sialidosis Type 1 (涎酸酵素缺乏症第1型)
209Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
210Spastic Paraplegia (遺傳性痙攣性下肢麻痺)
211Spina Bifida (SB) (先天性脊椎裂症)
212Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
213Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
214Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
215Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
216Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
217Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
218Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
219Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
220Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)