138Nemaline Myopathy (桿狀體肌肉病變)
139Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
140Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
141Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
142Neuromyelitis Optica (NMO) (視神經脊髓炎)
143Nicolaides-Baraitser Syndrome (NCBRS)
144Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
145Noonan Syndrome (努南氏症候群)