201Raynaud Phenomenon (雷諾氏現象)
202Relapsing Polychondritis (RP) (復發性多軟骨炎)
203ReNU Syndrome
204Retinitis Pigmentosa (RP) (視網膜色素病變)
205Rett Syndrome (RTT) (雷特氏症)
206Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
207Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
208Russell-Silver Syndrome (RSS) (羅素-西弗氏症)