101KCNB1 Syndrome (Genetic Disorder)
102KCNQ2 Syndrome (Genetic Disorder)
103Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
104KIF1A (Genetic Disorder)
105KIF5C Syndrome (Genetic Disorder)
106Kleefstra Syndrome (KS) (Kleefstra綜合症)
107Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)
108Langerhans Cell Histiocytosis (LCH) (蘭格罕細胞組織球增生症)
109Larsen Syndrome (颚裂-先天性脱位症候群)
110Leber's Congenital Amaurosis - Type 1 (LCA1) (Genetic Disorder) (先天性黑蒙症 - 第一型) (基因突變)
111Leigh Syndrome (Leigh氏症候群)
112Leopard Syndrome (豹皮症候群)
113Limb-girdle Muscular Dystrophy (LGMD) - Type 2A (肢帶型肌肉失養症 - 第2A型)
114Linear Scleroderma (線性硬皮症)
115Lissencephaly (平腦症)
116Lymphangioleiomyomatosis (LAM) (淋巴管平滑肌增生症)
117Maple Syrup Urine Disease (MSUD) (楓糖尿症)
118Marfan Syndrome (MFS) (馬凡氏症)
119McCune-Albright Syndrome (MAS) (纖維性骨失養症)
120Medulloblastoma (髓母細胞瘤)