200Raynaud Phenomenon (雷諾氏現象)
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)