163PACS1 Related Syndrome (Genetic Disorder)
164Paroxysmal Kinesigenic Dyskinesia (原發性陣發性動作型運動不良症)
165Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
166Pemphigus Vulgaris (天皰瘡)
167Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
168Peutz-Jeghers Syndrome (PJS) (黑斑息肉症候群)
169Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
170Phenylketonuria (PKU) (苯丙酮尿症)
171Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
172Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群 )
173Pitt-Hopkins Syndrome (皮特-霍普金斯症候群)
174Polymyositis (多發性肌炎)
175Prader-Willi Syndrome (PWS) (小胖威利症)
176Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
177Primary Hyperoxaluria Type 1 (PH1) (原發性高草酸尿症1型)
178Primary Immunodeficiency (PID) (原發性免疫缺陷病)
179Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
180Propionic Acidemia (丙酸血症)
181PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
182Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)