61Cornelia De Lange Syndrome (CdLS) (狄蘭氏症侯群)
62Costello Syndrome (克斯提洛氏彈性蛋白質缺陷症)
63Cri-Du-Chat Syndrome (貓哭症)
64Crohn's Disease (克隆氏症)
65CTNNB1 Syndrome (Genetic Disorder)
66Cushing's Syndrome (CS) (庫欣氏症候群)
67Cystic Fibrosis (囊腫性纖維化)
68Dandy-Walker Syndrome (Dandy-Walker氏症候群)
69Ddx3x Syndrome (Genetic Disorder)
70Dermatomyositis (皮肌炎)
71DiGeorge Syndrome (DGS) (迪喬治症侯群)
72DNM1-L Syndrome (Genetic Disorder)
73Dravet Syndrome (DS) (卓飛症候群)
74Duchenne Muscular Dystrophy (DMD) (杜興氏肌肉營養不良症)
75DYRK1A Syndrome (Genetic Disorder)
76Ectodermal Dysplasia (外胚層發育不良症)
77Ehlers-Danlos Syndrome (埃勒斯-當洛二氏症)
78Emery-Dreifuss Muscular Dystrophy (EDMD)
79Eosinophilic Granulomatosis with Polyangiitis (EGPA) (嗜酸性肉芽腫性多血管炎)
80Epidermolysis Bullosa (EB) (表皮溶解水皰症)