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 Immunodeficiency (PID) (原發性免疫缺陷病)
178Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
179Propionic Acidemia (丙酸血症)
180PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
181Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
182Pulmonary Hypertension (肺動脈高壓)