166NAA-10-related neurodevelopmental syndrome (NAA10相關神經發育綜合症)
167Nemaline Myopathy (桿狀體肌肉病變)
168Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
169Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
170Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
171Neurofibromatosis (NF) (神經纖維瘤)
172Neuromyelitis Optica (NMO) (視神經脊髓炎)
173Nicolaides-Baraitser Syndrome (NCBRS)
174Niemann-Pick Disease Type C (NPC) (尼曼匹克症C型)
175Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
176Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
177Noonan Syndrome (努南氏症候群)