185Sacral Chordoma (骶骨脊索瘤)
186Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
187Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
188Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
189SCN1A Syndrome (Genetic Disorder)
190SCN2A Syndrome (Genetic Disorder)
191SCN4A Myopathy (Genetic Disorder)
192SCN8A Syndrome (Genetic Disorder)
193Short Bowel Syndrome (短腸症)
194Sialidosis Type 1 (涎酸酵素缺乏症第1型)
195Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
196Spina Bifida (SB) (先天性脊椎裂症)
197Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
198Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
199Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
200Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
201Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
202Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
203Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
204Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)