99Maple Syrup Urine Disease (MSUD) (楓糖尿症)
100McCune-Albright Syndrome (MAS) (纖維性骨失養症)
101Medulloblastoma (髓母細胞瘤)
102Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
103Mesothelioma (間皮瘤)
104Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
105Mitochondrial Cardiomyopathy (線粒體心肌病變)
106Mitochondrial Disease (線粒體病)
107Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
108Motor Neuron Disease (MND) (運動神經元病)
109Mowat-Wilson Syndrome (MWS)
110Mucopolysaccharidoses (MPS) - Type 2 (黏多醣症第2型)
111Mucopolysaccharidoses (MPS) - Type 3 (黏多醣症第3型)
112Mucopolysaccharidoses (MPS) - Type 4 (黏多醣症第4型)
113Mucopolysaccharidoses (MPS) - Type 4A (黏多醣症第4A型)
114Mucopolysaccharidoses (MPS) - Type 6 (黏多醣症第6型)
115Multiple Epiphyseal Dysplasia (MED) (多發性骨骺發育不全症)
116Multiple Pituitary Hormom Deficiency (MPHD) / Anterior Pituitary Hypoplasia (腦下垂體發育不全症)
117Multiple Sclerosis (MS) (多發性硬化症)
118Multiple System Atrophy (MSA) -Pakinsonian Subtype (多重系統退化症-非典型巴金森症)