195Sacral Chordoma (骶骨脊索瘤)
196Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
197Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
198Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
199SCN1A Syndrome (Genetic Disorder)
200SCN2A Syndrome (Genetic Disorder)
201SCN4A Myopathy (Genetic Disorder)
202SCN8A Syndrome (Genetic Disorder)
203Short Bowel Syndrome (短腸症)
204Sialidosis Type 1 (涎酸酵素缺乏症第1型)
205Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
206Spastic Paraplegia (遺傳性痙攣性下肢麻痺)
207Spina Bifida (SB) (先天性脊椎裂症)
208Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
209Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
210Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
211Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
212Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
213Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
214Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)