121Leigh Syndrome (Leigh氏症候群)
122Leiomyosarcoma (LMS) (平滑肌肉瘤)
123Leopard Syndrome (豹皮症候群)
124Limb-girdle Muscular Dystrophy (LGMD) - Type 2A (肢帶型肌肉失養症 - 第2A型)
125Linear Scleroderma (線性硬皮症)
126Lissencephaly (平腦症)
127Lymphangioleiomyomatosis (LAM) (淋巴管平滑肌增生症)
128Maple Syrup Urine Disease (MSUD) (楓糖尿症)
129Marfan Syndrome (MFS) (馬凡氏症)
130McCune-Albright Syndrome (MAS) (纖維性骨失養症)
131Medulloblastoma (髓母細胞瘤)
132Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
133Mesothelioma (間皮瘤)
134Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
135Mitochondrial Cardiomyopathy (線粒體心肌病變)
136Mitochondrial Disease (線粒體病)
137Mixed Gonadal Dysgenesis (混合型性腺發育不良)
138Moebius Syndrome (莫比斯症候群)
139Monoclonal Gammopathies (單克隆免疫球蛋白沉積病)
140Motor Neuron Disease (MND) (運動神經元病)