129Langerhans Cell Histiocytosis (LCH) (蘭格罕細胞組織球增生症)
130Larsen Syndrome (颚裂-先天性脱位症候群)
131Leber's Congenital Amaurosis - Type 1 (LCA1) (Genetic Disorder) (先天性黑蒙症 - 第一型) (基因突變)
132Leber's Congenital Amaurosis - Type 3 (LCA3) (Genetic Disorder) (先天性黑蒙症 - 第三型) (基因突變)
133Leigh Syndrome (Leigh氏症候群)
134Leiomyosarcoma (LMS) (平滑肌肉瘤)
135Lennox-Gastaut syndrome (LGS) (雷葛氏症候群)
136Leopard Syndrome (豹皮症候群)
137Limb-girdle Muscular Dystrophy (LGMD) - Type 2A (肢帶型肌肉失養症 - 第2A型)
138Linear Scleroderma (線性硬皮症)
139Lissencephaly (平腦症)
140Lymphangioleiomyomatosis (LAM) (淋巴管平滑肌增生症)