106Maple Syrup Urine Disease (MSUD) (楓糖尿症)
107Marfan Syndrome (MPS) (馬凡氏症)
108McCune-Albright Syndrome (MAS) (纖維性骨失養症)
109Medulloblastoma (髓母細胞瘤)
110Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
111Mesothelioma (間皮瘤)
112Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
113Mitochondrial Cardiomyopathy (線粒體心肌病變)
114Mitochondrial Disease (線粒體病)
115Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
116Motor Neuron Disease (MND) (運動神經元病)
117Mowat-Wilson Syndrome (MWS)
118Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
119Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
120Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
121Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
122Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
123Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
124Multiple Pituitary Hormom Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
125Multiple Sclerosis (MS) (多發性硬化症)