41Collagen XII Myopathy (膠原蛋白XII缺失肌肉萎縮症)
42Cone-rod Dystrophy (視幹細胞營養不良症)
43Congenital Glaucoma (先天性青光眼)
44Congenital Insensitivity to Pain with Anhidrosis (CIPA) (先天性痛不敏感症合併無汗症)
45Congenital Muscular Dystrophy (CMD) (先天性肌营养不良症)
46Costello Syndrome (克斯提洛氏彈性蛋白質缺陷症)
47Cri Du Chat Syndrome (貓哭症)
48Crohn's Disease (克隆氏症)
49CTNNB1 Syndrome (Genetic Disorder)
50Cushing's Syndrome (CS) (庫欣氏症)
51Dandy-Walker Syndrome
52Ddx3x Syndrome (Genetic Disorder)
53De Lange Syndrome (DLS) (狄蘭氏症)
54DiGeorge Syndrome (DGS) (迪喬治症)
55DNM1-L Syndrome (Genetic Disorder)
56Dravet Syndrome (DS) (卓飛症)
57Duchenne Muscular Dystrophy (DMD) (杜興氏肌肉營養不良症)
58DYRK1A Syndrome (Genetic Disorder)
59Ectodermal Dysplasia (外胚層發育不良症)
60Ehlers-Danlos Syndrome (埃勒斯-當洛二氏症)