161Multiple System Atrophy (MSA) - Type C (多重系統退化症-C型)
162Myasthenia Gravis (MG) (重症肌無力症)
163Myhre Syndrome (Myhre綜合症)
164NAA-10-related neurodevelopmental syndrome (NAA10相關神經發育綜合症)
165Nemaline Myopathy (桿狀體肌肉病變)
166Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
167Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
168Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
169Neurofibromatosis (NF) (神經纖維瘤)
170Neuromyelitis Optica (NMO) (視神經脊髓炎)
171Nicolaides-Baraitser Syndrome (NCBRS)
172Niemann-Pick Disease Type C (NPC) (尼曼匹克症C型)
173Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
174Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
175Noonan Syndrome (努南氏症候群)
176Optic Neuropathy (視神經病變)
177Osteogenesis Imperfecta (OI) (成骨不全症)
178PACS1 Related Syndrome (Genetic Disorder)
179Paroxysmal Kinesigenic Dyskinesia (原發性陣發性動作型運動不良症)
180Paroxysmal Nocturnal Hemoglobinuria (PNH) (陣發性夜間血紅素尿症)