161Sacral Chordoma (骶骨脊索瘤)
162Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
163Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
164Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
165SCN1A Syndrome (Genetic Disorder)
166SCN2A Syndrome (Genetic Disorder)
167SCN8A Syndrome (Genetic Disorder)
168Short Bowel Syndrome (短腸症)
169Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
170Spina Bifida (SB) (先天性脊椎裂症)
171Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
172Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
173Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
174Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
175Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
176Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
177Stiff Person Syndrome (SPS) (僵硬人症)
178Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
179Supernumerary Chromosome 8 Syndrome (Genetic Disorder)