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