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