101Interstitial Lung Disease (ILD) (間質性肺病)
102Intravenous Leiomyomatosis (IVL) (静脉内平滑肌瘤)
103Jacobsen Syndrome (JS) (雅各森症候群)
104Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
105Kallmann Syndrome (KS) (卡爾曼氏症)
106KCNB1 Syndrome (Genetic Disorder)
107KCNQ2 Syndrome (Genetic Disorder)
108Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
109KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)
110KIF1A (Genetic Disorder)
111KIF5C Syndrome (Genetic Disorder)
112Kleefstra Syndrome (KS) (Kleefstra綜合症)
113Klippel-Trénaunay Syndrome (KTS) (静脈畸形骨肥大綜合症)
114Langerhans Cell Histiocytosis (LCH) (蘭格罕細胞組織球增生症)
115Larsen Syndrome (颚裂-先天性脱位症候群)
116Leber's Congenital Amaurosis - Type 1 (LCA1) (Genetic Disorder) (先天性黑蒙症 - 第一型) (基因突變)
117Leber's Congenital Amaurosis - Type 3 (LCA3) (Genetic Disorder) (先天性黑蒙症 - 第三型) (基因突變)
118Leigh Syndrome (Leigh氏症候群)
119Leiomyosarcoma (LMS) (平滑肌肉瘤)
120Leopard Syndrome (豹皮症候群)