181Stiff Person Syndrome (SPS) (僵硬人症)
182Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) (琥珀酸半醛脱氢酶缺乏症)
183Supernumerary Chromosome 8 Syndrome (Genetic Disorder)
184Takayasu Arteritis (TA) (高安氏症)
185Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-coil containing 2 (TANC2)
186TRIO and F-actin Binding Protein (TRIOBP) Syndrome (Genetic Disorder)
187Tuberous Sclerosis Complex (TSC) (結節性硬化症)
188Usher Syndrome (尤塞氏綜合症)
189Vitamin D-Resistant Rickets (抗維生素D性佝僂病)
190Waardenburg Syndrome (WS) (瓦登伯革氏症侯群)
191Walker-Warburg Syndrome (WWS) (Walker-Warburg綜合症)
192WDR45 (genetic disorder)
193Wells Syndrome (韋爾斯綜合症)
194West Syndrome-Infantile Spasms (韋氏症-嬰兒痙攣症)
195Williams Syndrome (WS) (威廉氏症候群)
196Wilson's Disease (WD) (威爾森氏症)
197Wolf–Hirschhorn Syndrome (WHS) (沃夫-賀許宏氏症候群)
198Wolfram Syndrome (Wolfram症候群)
199Worster-Drought Syndrome (WDS)
200WWOX Syndrome (Genetic Disorder)