221Spinal Muscular Atrophy (SMA) - Type 2 (脊髓肌肉萎縮症第2型)
222Spinal Muscular Atrophy (SMA) - Type 3 (脊髓肌肉萎縮症第3型)
223Spinalcerebellar Ataxia (SCA) - Type 2 (小腦萎縮症第2型)
224Spinalcerebellar Ataxia (SCA) - Type 3 (小腦萎縮症第3型)
225Spinalcerebellar Ataxia (SCA) - Type 35 (小腦萎縮症 - 第35型)
226Spinalcerebellar Ataxia (SCA) - Type 40 (小腦萎縮症 - 第40型)
227Spondyloepiphyseal Dysplasia Congenita (SEDC) (先天性脊椎骨骺發育不全症)
228Stat1 Immunodeficiency (Genetic Disorder) (Stat1免疫缺陷) (基因突變)
229Stiff Person Syndrome (SPS) (僵硬人症侯群)
230Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
231Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
232Symbrachydactyly (先天手差異)
233Takayasu Arteritis (TA) (高安氏症)
234Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
235Thalassemia Major - Type B (地中海貧血症乙型)重型
236TRIO and F-actin Binding Protein Syndrome (TRIOBP) (Genetic Disorder)
237Tuberous Sclerosis Complex (TSC) (結節性硬化症)
238Usher Syndrome (尤塞氏綜合症) / Retinal Degeneration
239Verrucous Venous Malformation (VVM) (尤狀靜脈畸形症)
240Vitamin D-Resistant Rickets (抗維生素D性佝僂病)