81Erythromelagia (紅斑性肢痛症)
82Fabry Disease (法布瑞氏症)
83Facioscapulohumeral Muscular Dystrophy (FSHD) - Type 1 (面肩肱型肌肉營養不良症第1型)
84Familial Amyloid Polyneuropathy (FAP) (家族性澱粉樣物多發性神經病變)
85Familial Hypertriglyceridemia (FH)
86Fibrodysplasia Ossificans Progressiva (FOP) (進行性肌肉骨化症)
87Floating-Harbor Syndrome (FHS) (Floating-Harbor綜合症)
88Fragile X Syndrome (FXS) (X染色體脆弱症)
89Glioblastoma Multiforme (GBM) (膠質母細胞瘤)
90Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 (GRIN 1)
91Glutaric Acidemia Type 1 (GA1) (戊二酸血症第1型)
92Glutaric Acidemia Type 2 (GA2) (戊二酸血症第2型)
93Glycogen Storage Disease (GSD) - Type 1,G6PC Variants (肝醣儲積症第1型,G6PC病變異)
94Glycogen Storage Disease (GSD) - Type 1A (肝醣儲積症第1A型)
95Glycogen Storage Disease (GSD) - Type 1B (肝醣儲積症第1B型)
96Glycogen Storage Disease (GSD) - Type 2 (肝醣儲積症第2型) / Pompe Disease (龐貝氏症)
97Glycogen Storage Disease (GSD) - Type 6 (肝醣儲積症第6型)
98Glycogen Storage Disease (GSD) - Type 9A (Pathogenic Variant) (肝醣儲積症第9A型)
99Guillain-Barré Syndrome (GBS) (格林-巴利綜合征)
100Hereditary Angiodema (HAE) (遺傳性血管性水腫症)