191Sacral Chordoma (骶骨脊索瘤)
192Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
193Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
194Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
195SCN1A Syndrome (Genetic Disorder)
196SCN2A Syndrome (Genetic Disorder)
197SCN4A Myopathy (Genetic Disorder)
198SCN8A Syndrome (Genetic Disorder)
199Short Bowel Syndrome (短腸症)
200Sialidosis Type 1 (涎酸酵素缺乏症第1型)
201Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
202Spina Bifida (SB) (先天性脊椎裂症)
203Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
204Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
205Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
206Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
207Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
208Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
209Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
210Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)