61Congenital Bile Acid Synthesis (CBAS) (胆汁酸合成障碍)
62Congenital Glaucoma (先天性青光眼)
63Congenital Insensitivity to Pain with Anhidrosis (CIPA) (先天性痛覺不敏感症合併無汗症)
64Congenital Muscular Dystrophy (CMD) (先天性肌营养不良症)
65Cornelia De Lange Syndrome (CdLS) (狄蘭氏症侯群)
66Costello Syndrome (克斯提洛氏彈性蛋白質缺陷症)
67Cri-Du-Chat Syndrome (貓哭症)
68Crohn's Disease (克隆氏症)
69CTNNB1 Syndrome (Genetic Disorder)
70Cushing's Syndrome (CS) (庫欣氏症候群)
71Cystic Fibrosis (囊腫性纖維化)
72Dandy-Walker Syndrome (Dandy-Walker氏症候群)
73Ddx3x Syndrome (Genetic Disorder)
74Dermatomyositis (皮肌炎)
75DiGeorge Syndrome (DGS) (迪喬治症侯群)
76DNM1-L Syndrome (Genetic Disorder)
77Dravet Syndrome (DS) (卓飛症候群)
78Duchenne Muscular Dystrophy (DMD) (杜興氏肌肉營養不良症)
79DYRK1A Syndrome (Genetic Disorder)
80Ectodermal Dysplasia (外胚層發育不良症)