61DNM1-L Syndrome (Genetic Disorder)
62Dravet Syndrome (DS) (卓飛症候群)
63Duchenne Muscular Dystrophy (DMD) (杜興氏肌肉營養不良症)
64DYRK1A Syndrome (Genetic Disorder)
65Ectodermal Dysplasia (外胚層發育不良症)
66Ehlers-Danlos Syndrome (埃勒斯-當洛二氏症)
67Eosinophilic Granulomatosis with Polyangiitis (EGPA) (過敏性肉芽腫血管炎)
68Epidermolysis Bullosa (EB) (表皮溶解水皰症)
69Epithelioid Hemangioendothelioma (EHE) (上皮樣血管内皮瘤)
70Erythromelagia(紅斑性肢痛症)
71Fabry Disease (法布瑞氏症)
72Facioscapulohumeral Muscular Dystrophy (FSHD) - Type 1 (面肩肱型肌肉營養不良症第1型)
73Familial Amyloid Polyneuropathy (FAP) (家族性澱粉樣物多發性神經病變)
74Fibrodysplasia Ossificans Progressiva (FOP) (進行性肌肉骨化症)
75Floating-Harbor Syndrome (FHS) (Floating-Harbor綜合症)
76Fragile X Syndrome (FXS) (X染色體脆弱症)
77Glioblastoma Multiforme (GBM) (膠質母細胞瘤)
78Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 (GRIN 1)
79Glutaric Acidemia Type 2 (GA2) (戊二酸血症第2型)
80Glycogen Storage Disease (GSD) - Type 1,G6PC Variants (肝醣儲積症第1型,G6PC病變異)