160Sacral Chordoma (骶骨脊索瘤)
161Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
162Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
163SCN1A Syndrome (Genetic Disorder)
164SCN2A Syndrome (Genetic Disorder)
165SCN8A Syndrome (Genetic Disorder)
166Short Bowel Syndrome (短腸症)
167Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
168Spina Bifida (SB) (先天性脊椎裂症)
169Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
170Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
171Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
172Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
173Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
174Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
175Stiff Person Syndrome (SPS) (僵硬人症)
176Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氫酶缺乏症)
177Supernumerary Chromosome 8 Syndrome (Genetic Disorder)