161Neuroendocrine Tumor (NET) (神經內分泌腫瘤) 
162Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
163Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
164Neuromyelitis Optica (NMO) (視神經脊髓炎) 
165Nicolaides-Baraitser Syndrome (NCBRS)
166Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
167Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
168Noonan Syndrome (努南氏症候群)
169Optic Neuropathy (視神經病變)
170Osteogenesis Imperfecta (OI) (成骨不全症)
171PACS1 Related Syndrome (Genetic Disorder)  
172Paroxysmal Kinesigenic Dyskinesia (原發性陣發性動作型運動不良症)
173Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)
174Pemphigus Vulgaris (天皰瘡)
175Persistent Hyperplasia of Primary Vitreous (PHPV) (持續增生性原始玻璃體症)
176Peutz-Jeghers Syndrome (PJS) (黑斑息肉症候群)
177Phakomatosis Pigmentovascularis (PPV) (色素血管性母班症)
178Phenylketonuria (PKU) (苯丙酮尿症)
179Phosphatase and Tensin Homolog (PTEN) (Genetic Disorder) (磷酸酯酶與張力蛋白同源物) (基因病變)
180Pierre Robin Syndrome (PRS) (皮爾羅賓症侯群 )