167Raynaud Phenomenon (雷諾氏現象)
168Relapsing Polychondritis (RP) (復發性多軟骨炎)
169Retinitis Pigmentosa (RP) (視網膜色素病變)
170Rett Syndrome (RTT) (雷特氏症)
171Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
172Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
173Russell-Silver Syndrome (RSS) (羅素-西弗氏症)