146Nemaline Myopathy (桿狀體肌肉病變)
147Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
148Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
149Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
150Neuromyelitis Optica (NMO) (視神經脊髓炎)
151Nicolaides-Baraitser Syndrome (NCBRS)
152Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
153Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
154Noonan Syndrome (努南氏症候群)