192Sacral Chordoma (骶骨脊索瘤)
193Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
194Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
195Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
196SCN1A Syndrome (Genetic Disorder)
197SCN2A Syndrome (Genetic Disorder)
198SCN4A Myopathy (Genetic Disorder)
199SCN8A Syndrome (Genetic Disorder)
200Short Bowel Syndrome (短腸症)
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)