168Sacral Chordoma (骶骨脊索瘤)
169Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
170Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
171Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
172SCN1A Syndrome (Genetic Disorder)
173SCN2A Syndrome (Genetic Disorder)
174SCN8A Syndrome (Genetic Disorder)
175Short Bowel Syndrome (短腸症)
176Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
177Spina Bifida (SB) (先天性脊椎裂症)
178Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
179Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
180Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
181Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
182Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
183Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
184Stiff Person Syndrome (SPS) (僵硬人症)
185Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
186Supernumerary Chromosome 8 Syndrome (Genetic Disorder)