103Maple Syrup Urine Disease (MSUD) (楓糖尿症)
104Marfan Syndrome (MPS) (馬凡氏症候群)
105McCune-Albright Syndrome (MAS) (纖維性骨失養症)
106Medulloblastoma (髓母細胞瘤)
107Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
108Mesothelioma (間皮瘤)
109Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
110Mitochondrial Cardiomyopathy (線粒體心肌病變)
111Mitochondrial Disease (線粒體疾病)
112Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
113Motor Neuron Disease (MND) (運動神經元病)
114Mowat-Wilson Syndrome (MWS) (Mowat-Wilson綜合症)
115Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
116Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
117Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
118Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
119Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
120Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
121Multiple Pituitary Hormom Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
122Multiple Sclerosis (MS) (多發性硬化症)