201Relapsing Polychondritis (RP) (復發性多軟骨炎)
202ReNU Syndrome
203Retinitis Pigmentosa (RP) (視網膜色素病變)
204Rett Syndrome (RTT) (雷特氏症)
205Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
206Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
207Russell-Silver Syndrome (RSS) (羅素-西弗氏症)
208Sacral Chordoma (骶骨脊索瘤)
209Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
210Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
211Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤) 神經失調症)
212SCN1A Syndrome (Genetic Disorder)
213SCN2A Syndrome (Genetic Disorder)
214SCN4A Myopathy (Genetic Disorder)
215SCN8A Syndrome (Genetic Disorder)
216Short Bowel Syndrome (短腸症)
217Sialidosis Type 1 (涎酸酵素缺乏症第1型)
218Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)
219Spina Bifida (SB) (先天性脊椎裂症)
220Spinal Muscular Atrophy (SMA) - Type 1 (脊髓肌肉萎縮症第1型)