164NAA-10-related neurodevelopmental syndrome (NAA10相關神經發育綜合症)
165Nemaline Myopathy (桿狀體肌肉病變)
166Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
167Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
168Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
169Neurofibromatosis (NF) (神經纖維瘤)
170Neuromyelitis Optica (NMO) (視神經脊髓炎)
171Nicolaides-Baraitser Syndrome (NCBRS)
172Niemann-Pick Disease Type C (NPC) (尼曼匹克症C型)
173Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
174Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
175Noonan Syndrome (努南氏症候群)