61Duchenne Muscular Dystrophy (DMD) (杜興氏肌肉營養不良症)
62DYRK1A Syndrome (Genetic Disorder)
63Ectodermal Dysplasia (外胚層發育不良症)
64Ehlers-Danlos Syndrome (埃勒斯-當洛二氏症)
65Eosinophilic Granulomatosis with Polyangiitis (EGPA) (過敏性肉芽腫血管炎)
66Epidermolysis Bullosa (EB) (表皮溶解水皰症)
67Epithelioid Hemangioendothelioma (EHE) (上皮樣血管内皮瘤)
68Fabry Disease (法布瑞氏症)
69Facioscapulohumeral Muscular Dystrophy (FSHD) - Type 1 (面肩肱型肌肉營養不良症第1型)
70Familial Amyloid Polyneuropathy (FAP) (家族性澱粉樣物多發性神經病變)
71Fibrodysplasia Ossificans Progressiva (FOP) (進行性肌肉骨化症)
72Floating-Harbor Syndrome (FHS) (Floating-Harbor綜合症)
73Fragile X Syndrome (FXS) (X染色體脆弱症)
74Glioblastoma Multiforme (GBM) (膠質母細胞瘤)
75Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 (GRIN 1)
76Glutaric Acidemia Type 2 (GA2) (戊二酸血症第2型)
77Glycogen Storage Disease (GSD) - Type 1,G6PC Variants (肝醣儲積症第1型,G6PC病變異)
78Glycogen Storage Disease (GSD) - Type 1B (肝醣儲積症第1B型)
79Glycogen Storage Disease (GSD) - Type 2 (肝醣儲積症第2型) / Pompe Disease (龐貝氏症)
80Glycogen Storage Disease (GSD) - Type 6 (肝醣儲積症第6型)