210Sacral Chordoma (骶骨脊索瘤)
211Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
212Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
213Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
214SCN1A Syndrome (Genetic Disorder)
215SCN2A Syndrome (Genetic Disorder)
216SCN4A Myopathy (Genetic Disorder)
217SCN8A Syndrome (Genetic Disorder)
218Short Bowel Syndrome (短腸症)
219Sialidosis Type 1 (涎酸酵素缺乏症第1型)
220Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
221Spina Bifida (SB) (先天性脊椎裂症)
222Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
223Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
224Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
225Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
226Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
227Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
228Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
229Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)