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