141Mitochondrial Disease (線粒體病)
142Mixed Gonadal Dysgenesis (混合型性腺發育不良)
143Moebius Syndrome (莫比斯症候群)
144Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
145Motor Neuron Disease (MND) (運動神經元病)
146Mowat-Wilson Syndrome (MWS)
147Moyamoya Disease (毛毛樣腦血管病)
148Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
149Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
150Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
151Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
152Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
153Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
154Multiple Pituitary Hormome Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
155Multiple Sclerosis (MS) (多發性硬化症)
156Multiple System Atrophy (MSA) - Pakinsonian Subtype (多重系統退化症-非典型巴金森症)
157Multiple System Atrophy (MSA) - Type C (多重系統退化症-C型)
158Myasthenia Gravis (MG) (重症肌無力症)
159Myhre Syndrome (Myhre綜合症)
160Nemaline Myopathy (桿狀體肌肉病變)