201Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
202Propionic Acidemia (丙酸血症)
203PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
204Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
205Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)
206Rauch Steindl Syndrome (RAUST) (Rauch-Steindl 症候群)
207Raynaud Phenomenon (雷諾氏現象)
208Relapsing Polychondritis (RP) (復發性多軟骨炎)
209ReNU Syndrome
210Retinitis Pigmentosa (RP) (視網膜色素病變)
211Rett Syndrome (RTT) (雷特氏症)
212Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
213Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
214Russell-Silver Syndrome (RSS) (羅素-西弗氏症)
215Sacral Chordoma (骶骨脊索瘤)
216Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
217Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
218Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
219SCN1A Syndrome (Genetic Disorder)
220SCN2A Syndrome (Genetic Disorder)