132Nemaline Myopathy (桿狀體肌肉病變)
133Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
134Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
135Neuromyelitis Optica (NMO) (視神經脊髓炎)
136Nicolaides-Baraitser Syndrome (NCBRS)
137Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
138Noonan Syndrome (努南氏症候群)