184Sacral Chordoma (骶骨脊索瘤)
185Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
186Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
187Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
188SCN1A Syndrome (Genetic Disorder)
189SCN2A Syndrome (Genetic Disorder)
190SCN4A Myopathy (Genetic Disorder)
191SCN8A Syndrome (Genetic Disorder)
192Short Bowel Syndrome (短腸症)
193Sialidosis Type 1 (涎酸酵素缺乏症第1型)
194Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
195Spina Bifida (SB) (先天性脊椎裂症)
196Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
197Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
198Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
199Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
200Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
201Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
202Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
203Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)