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