121Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)
122Langerhans Cell Histiocytosis (LCH) (蘭格罕細胞組織球增生症)
123Larsen Syndrome (颚裂-先天性脱位症候群)
124Leber's Congenital Amaurosis - Type 1 (LCA1) (Genetic Disorder) (先天性黑蒙症 - 第一型) (基因突變)
125Leber's Congenital Amaurosis - Type 3 (LCA3) (Genetic Disorder) (先天性黑蒙症 - 第三型) (基因突變)
126Leigh Syndrome (Leigh氏症候群)
127Leiomyosarcoma (LMS) (平滑肌肉瘤)
128Leopard Syndrome (豹皮症候群)
129Limb-girdle Muscular Dystrophy (LGMD) - Type 2A (肢帶型肌肉失養症 - 第2A型)
130Linear Scleroderma (線性硬皮症)
131Lissencephaly (平腦症)
132Lymphangioleiomyomatosis (LAM) (淋巴管平滑肌增生症)
133Maple Syrup Urine Disease (MSUD) (楓糖尿症)
134Marfan Syndrome (MFS) (馬凡氏症)
135McCune-Albright Syndrome (MAS) (纖維性骨失養症)
136Medulloblastoma (髓母細胞瘤)
137Melanomae / Eye Ciliary Body Tumor (眼睫狀體黑色素瘤)
138Mesothelioma (間皮瘤)
139Methylmalonic Acidemia (MMA) (甲基丙二酸血症)
140Mitochondrial Cardiomyopathy (線粒體心肌病變)