200Sacral Chordoma (骶骨脊索瘤)
201Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
202Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
203Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
204SCN1A Syndrome (Genetic Disorder)
205SCN2A Syndrome (Genetic Disorder)
206SCN4A Myopathy (Genetic Disorder)
207SCN8A Syndrome (Genetic Disorder)
208Short Bowel Syndrome (短腸症)
209Sialidosis Type 1 (涎酸酵素缺乏症第1型)
210Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
211Spastic Paraplegia (遺傳性痙攣性下肢麻痺)
212Spina Bifida (SB) (先天性脊椎裂症)
213Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
214Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
215Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
216Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
217Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
218Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
219Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)