201Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)
202Raynaud Phenomenon (雷諾氏現象)
203Relapsing Polychondritis (RP) (復發性多軟骨炎)
204ReNU Syndrome
205Retinitis Pigmentosa (RP) (視網膜色素病變)
206Rett Syndrome (RTT) (雷特氏症)
207Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
208Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
209Russell-Silver Syndrome (RSS) (羅素-西弗氏症)
210Sacral Chordoma (骶骨脊索瘤)
211Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
212Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
213Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
214SCN1A Syndrome (Genetic Disorder)
215SCN2A Syndrome (Genetic Disorder)
216SCN4A Myopathy (Genetic Disorder)
217SCN8A Syndrome (Genetic Disorder)
218Short Bowel Syndrome (短腸症)
219Sialidosis Type 1 (涎酸酵素缺乏症第1型)
220Smith-Magenis Syndrome (SMS) (史密斯-馬吉利氏症)