125Nemaline Myopathy (桿狀體肌肉病變)
126Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
127Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
128Neurogenic Tumors of the Sciatic Nerve (坐骨神經的神經源性腫瘤)
129Neuromyelitis Optica (NMO) (視神經脊髓炎)
130Nicolaides-Baraitser Syndrome (NCBRS) (Nicolaides-Baraitser綜合症)
131Non-Infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
132Noonan Syndrome (努南氏症候群)