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