160Nemaline Myopathy (桿狀體肌肉病變)
161Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
162Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
163Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
164Neuromyelitis Optica (NMO) (視神經脊髓炎)
165Nicolaides-Baraitser Syndrome (NCBRS)
166Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
167Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
168Noonan Syndrome (努南氏症候群)