144Nemaline Myopathy (桿狀體肌肉病變)
145Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
146Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
147Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
148Neuromyelitis Optica (NMO) (視神經脊髓炎)
149Nicolaides-Baraitser Syndrome (NCBRS)
150Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
151Noonan Syndrome (努南氏症候群)