109Maple Syrup Urine Disease (MSUD) (楓糖尿症)
110Marfan Syndrome (MPS) (馬凡氏症)
111McCune-Albright Syndrome (MAS) (纖維性骨失養症)
112Medulloblastoma (髓母細胞瘤)
113Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
114Mesothelioma (間皮瘤)
115Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
116Mitochondrial Cardiomyopathy (線粒體心肌病變)
117Mitochondrial Disease (線粒體病)
118Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
119Motor Neuron Disease (MND) (運動神經元病)
120Mowat-Wilson Syndrome (MWS)
121Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
122Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
123Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
124Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
125Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
126Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
127Multiple Pituitary Hormom Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
128Multiple Sclerosis (MS) (多發性硬化症)