157Nemaline Myopathy (桿狀體肌肉病變)
158Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
159Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
160Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
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)