181Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
182Parry-Romberg syndrome (PRS) (Parry-Romberg 症候群)
183Pemphigus Vulgaris (天皰瘡)
184Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
185Peutz-Jeghers Syndrome (PJS) (黑斑息肉症候群)
186Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
187Phenylketonuria (PKU) (苯丙酮尿症)
188Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
189Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群)
190Pitt-Hopkins Syndrome (皮特-霍普金斯症候群)
191Polymyositis (多發性肌炎)
192Prader-Willi Syndrome (PWS) (小胖威利症)
193Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
194Primary Hyperoxaluria Type 1 (PH1) (原發性高草酸尿症1型)
195Primary Immunodeficiency (PID) (原發性免疫缺陷病)
196Primary Pulmonary Arterial Hypertension (肺動脈高壓)
197Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
198Propionic Acidemia (丙酸血症)
199PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
200Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)