141Maple Syrup Urine Disease (MSUD) (楓糖尿症)
142Marfan Syndrome (MFS) (馬凡氏症)
143McCune-Albright Syndrome (MAS) (纖維性骨失養症)
144Medulloblastoma (髓母細胞瘤)
145Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
146Mesothelioma (間皮瘤)
147Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
148Mitochondrial Cardiomyopathy (線粒體心肌病變)
149Mitochondrial Disease (線粒體病)
150Mixed Connective Tissue Disease (MCTD) (混合性結締組織病)
151Mixed Gonadal Dysgenesis (混合型性腺發育不良)
152Moebius Syndrome (莫比斯症候群)
153Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
154Motor Neuron Disease (MND) (運動神經元病)
155Mowat-Wilson Syndrome (MWS)
156Moyamoya Disease (毛毛樣腦血管病)
157Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
158Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
159Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
160Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)