120Nemaline Myopathy (桿狀體肌肉病變)
121Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
122Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
123Neuromyelitis Optica (NMO) (視神經脊髓炎)
124Nicolaides-Baraitser Syndrome (NCBRS)
125Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
126Noonan Syndrome (NS) (努南氏症)