141Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
142Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
143Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
144Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
145Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
146Multiple Pituitary Hormome Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
147Multiple Sclerosis (MS) (多發性硬化症)
148Multiple System Atrophy (MSA) - Pakinsonian Subtype (多重系統退化症-非典型巴金森症)
149Multiple System Atrophy (MSA) - Type C (多重系統退化症-C型)
150Myasthenia Gravis (MG) (重症肌無力症)
151Myhre Syndrome (Myhre綜合症)
152Nemaline Myopathy (桿狀體肌肉病變)
153Neuroendocrine Tumor (NET) (神經內分泌腫瘤)
154Neurofibromatosis (NF) - Type 1 (神經纖維瘤第1型)
155Neurofibromatosis (NF) - Type 2 (神經纖維瘤第2型)
156Neuromyelitis Optica (NMO) (視神經脊髓炎)
157Nicolaides-Baraitser Syndrome (NCBRS)
158Niemann-Pick Disease Type C1 (NPC1) (尼曼匹克症C1型)
159Non-infectious Non-Anterior (NINA) Uveitis (非感染性非前段葡萄膜炎)
160Noonan Syndrome (努南氏症候群)