133Maple Syrup Urine Disease (MSUD) (楓糖尿症)
134Marfan Syndrome (MFS) (馬凡氏症)
135McCune-Albright Syndrome (MAS) (纖維性骨失養症)
136Medulloblastoma (髓母細胞瘤)
137Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
138Mesothelioma (間皮瘤)
139Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
140Mitochondrial Cardiomyopathy (線粒體心肌病變)
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)