125Maple Syrup Urine Disease (MSUD) (楓糖尿症)
126Marfan Syndrome (MFS) (馬凡氏症)
127McCune-Albright Syndrome (MAS) (纖維性骨失養症)
128Medulloblastoma (髓母細胞瘤)
129Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
130Mesothelioma (間皮瘤)
131Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
132Mitochondrial Cardiomyopathy (線粒體心肌病變)
133Mitochondrial Disease (線粒體病)
134Mixed Gonadal Dysgenesis (混合型性腺發育不良)
135Moebius Syndrome (莫比斯症候群)
136Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
137Motor Neuron Disease (MND) (運動神經元病)
138Mowat-Wilson Syndrome (MWS)
139Moyamoya Disease (毛毛樣腦血管病)
140Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
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)