141Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
142Mesothelioma (間皮瘤)
143Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
144Mitochondrial Cardiomyopathy (線粒體心肌病變)
145Mitochondrial Disease (線粒體病)
146Mixed Connective Tissue Disease (MCTD) (混合性結締組織病)
147Mixed Gonadal Dysgenesis (混合型性腺發育不良)
148Moebius Syndrome (莫比斯症候群)
149Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
150Motor Neuron Disease (MND) (運動神經元病)
151Mowat-Wilson Syndrome (MWS)
152Moyamoya Disease (毛毛樣腦血管病)
153Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
154Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
155Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
156Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
157Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
158Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
159Multiple Pituitary Hormome Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
160Multiple Sclerosis (MS) (多發性硬化症)