141Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
142Pemphigus Vulgaris (天皰瘡)
143Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
144Peutz-Jeghers Syndrome (PJS) (黑斑息肉症候群)
145Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
146Phenylketonuria (PKU) (苯丙酮尿症)
147Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
148Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群 )
149Polymyositis (多發性肌炎)
150Prader-Willi Syndrome (PWS) (小胖威利症)
151Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
152Primary Immunodeficiency (PID) (原發性免疫缺陷病)
153Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
154Propionic Acidemia (丙酸血症)
155PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
156Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
157Pulmonary Hypertension (肺動脈高壓)
158Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)