181Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群 )
182Pitt-Hopkins Syndrome (皮特-霍普金斯症候群)
183Polymyositis (多發性肌炎)
184Prader-Willi Syndrome (PWS) (小胖威利症)
185Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
186Primary Hyperoxaluria Type 1 (PH1) (原發性高草酸尿症1型)
187Primary Immunodeficiency (PID) (原發性免疫缺陷病)
188Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
189Propionic Acidemia (丙酸血症)
190PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
191Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
192Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)
193Raynaud Phenomenon (雷諾氏現象)
194Relapsing Polychondritis (RP) (復發性多軟骨炎)
195Retinitis Pigmentosa (RP) (視網膜色素病變)
196Rett Syndrome (RTT) (雷特氏症)
197Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
198Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
199Russell-Silver Syndrome (RSS) (羅素-西弗氏症)
200Sacral Chordoma (骶骨脊索瘤)