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