211Sacral Chordoma (骶骨脊索瘤)
212Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
213Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
214Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤) 神經失調症)
215SCN1A Syndrome (Genetic Disorder)
216SCN2A Syndrome (Genetic Disorder)
217SCN4A Myopathy (Genetic Disorder)
218SCN8A Syndrome (Genetic Disorder)
219Short Bowel Syndrome (短腸症)
220Sialidosis Type 1 (涎酸酵素缺乏症第1型)
221Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
222Spina Bifida (SB) (先天性脊椎裂症)
223Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
224Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
225Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
226Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
227Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
228Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
229Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
230Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)