130Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
131Pemphigus Vulgaris (天皰瘡)
132Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
133Peutz-Jeghers Syndrome (PJS) (黑斑息肉症)
134Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
135Phenylketonuria (PKU) (苯丙酮尿症)
136Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
137Pierre Robin Syndrome (PRS) (皮爾羅賓氏症)
138Prader-Willi Syndrome (PWS) (小胖威利症)
139Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
140Primary Immunodeficiency (PID) (原發性免疫缺陷病)
141Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
142Propionic Acidemia (丙酸血症)
143PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
144Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
145Pulmonary Hypertension (肺動脈高壓)
146Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)