81Ehlers-Danlos Syndrome (埃勒斯-當洛二氏症)
82Emery-Dreifuss Muscular Dystrophy (EDMD)
83Eosinophilic Granulomatosis with Polyangiitis (EGPA) (嗜酸性肉芽腫性多血管炎)
84Epidermolysis Bullosa (EB) (表皮溶解水皰症)
85Epithelioid Hemangioendothelioma (EHE) (上皮樣血管内皮瘤)
86Erythromelagia (紅斑性肢痛症)
87Fabry Disease (法布瑞氏症)
88Facioscapulohumeral Muscular Dystrophy (FSHD) - Type 1 (面肩肱型肌肉營養不良症第1型)
89Familial Amyloid Polyneuropathy (FAP) (家族性澱粉樣物多發性神經病變)
90Familial Hypertriglyceridemia (FH)
91Fibrodysplasia Ossificans Progressiva (FOP) (進行性肌肉骨化症)
92Floating-Harbor Syndrome (FHS) (Floating-Harbor綜合症)
93Fragile X Syndrome (FXS) (X染色體脆弱症)
94Gitelman syndrome (吉特曼症候群)
95Glioblastoma Multiforme (GBM) (膠質母細胞瘤)
96Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 (GRIN 1)
97Glutaric Acidemia Type 1 (GA1) (戊二酸血症第1型)
98Glutaric Acidemia Type 2 (GA2) (戊二酸血症第2型)
99Glycogen Storage Disease (GSD) - Type 1,G6PC Variants (肝醣儲積症第1型,G6PC病變異)
100Glycogen Storage Disease (GSD) - Type 1A (肝醣儲積症第1A型)