221SCN4A Myopathy (Genetic Disorder)
222SCN8A Syndrome (Genetic Disorder)
223Short Bowel Syndrome (短腸症)
224Sialidosis Type 1 (涎酸酵素缺乏症第1型)
225Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
226Spina Bifida (SB) (先天性脊椎裂症)
227Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
228Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
229Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
230Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
231Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
232Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
233Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
234Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
235Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
236Stickler Syndrome (斯蒂克勒氏症候群)
237Stiff Person Syndrome (SPS) (僵硬人症侯群)
238Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
239Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
240Symbrachydactyly (先天手差異)