168PACS1 Related Syndrome (Genetic Disorder)
169Paroxysmal Kinesigenic Dyskinesia (原發性陣發性動作型運動不良症)
170Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
171Pemphigus Vulgaris (天皰瘡)
172Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
173Peutz-Jeghers Syndrome (PJS) (黑斑息肉症候群)
174Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
175Phenylketonuria (PKU) (苯丙酮尿症)
176Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
177Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群 )
178Pitt-Hopkins Syndrome (皮特-霍普金斯症候群)
179Polymyositis (多發性肌炎)
180Prader-Willi Syndrome (PWS) (小胖威利症)
181Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
182Primary Hyperoxaluria Type 1 (PH1) (原發性高草酸尿症1型)
183Primary Immunodeficiency (PID) (原發性免疫缺陷病)
184Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
185Propionic Acidemia (丙酸血症)
186PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
187Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)