153Sacral Chordoma (骶骨脊索瘤)
154Schaaf-Yang Syndrome (SYS)
155Schinzel Giedion Syndrome (SGS)
156SCN1A Syndrome (Genetic Disorder)
157SCN2A Syndrome (Genetic Disorder)
158SCN8A Syndrome (Genetic Disorder)
159Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
160Spina Bifida (SB) (先天性脊椎裂症)
161Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
162Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
163Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
164Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
165Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
166Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
167Stiff Person Syndrome (SPS) (僵硬人症)
168Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
169Supernumerary Chromosome 8 Syndrome (Genetic Disorder)