221Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
222Spina Bifida (SB) (先天性脊椎裂症)
223Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)
224Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
225Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
226Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
227Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
228Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
229Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
230Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
231Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
232Stiff Person Syndrome (SPS) (僵硬人症侯群)
233Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
234Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
235Symbrachydactyly (先天手差異)
236Takayasu Arteritis (TA) (高安氏症)
237Tay Sachs (戴薩克斯症)
238Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
239Thalassemia Major - Type B (地中海貧血症乙型)重型
240TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)