161Neuromyelitis Optica (NMO) (視神經脊髓炎)
162Nicolaides-Baraitser Syndrome (NCBRS)
163Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
164Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
165Noonan Syndrome (努南氏症候群)
166Optic Neuropathy (視神經病變)
167Osteogenesis Imperfecta (OI) (成骨不全症)
168PACS1 Related Syndrome (Genetic Disorder)
169Paroxysmal Kinesigenic Dyskinesia (原發性陣發性動作型運動不良症)
170Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
171Pemphigus Vulgaris (天皰瘡)
172Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
173Peutz-Jeghers Syndrome (PJS) (黑斑息肉症候群)
174Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
175Phenylketonuria (PKU) (苯丙酮尿症)
176Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
177Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群 )
178Pitt-Hopkins Syndrome (皮特-霍普金斯症候群)
179Polymyositis (多發性肌炎)
180Prader-Willi Syndrome (PWS) (小胖威利症)