81Familial Hypertriglyceridemia (FH)
82Fibrodysplasia Ossificans Progressiva (FOP) (進行性肌肉骨化症)
83Floating-Harbor Syndrome (FHS) (Floating-Harbor綜合症)
84Fragile X Syndrome (FXS) (X染色體脆弱症)
85Glioblastoma Multiforme (GBM) (膠質母細胞瘤)
86Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 1 (GRIN 1)
87Glutaric Acidemia Type 1 (GA1) (戊二酸血症第1型)
88Glutaric Acidemia Type 2 (GA2) (戊二酸血症第2型)
89Glycogen Storage Disease (GSD) - Type 1,G6PC Variants (肝醣儲積症第1型,G6PC病變異)
90Glycogen Storage Disease (GSD) - Type 1A (肝醣儲積症第1A型)
91Glycogen Storage Disease (GSD) - Type 1B (肝醣儲積症第1B型)
92Glycogen Storage Disease (GSD) - Type 2 (肝醣儲積症第2型) / Pompe Disease (龐貝氏症)
93Glycogen Storage Disease (GSD) - Type 6 (肝醣儲積症第6型)
94Guillain-Barré Syndrome (GBS) (格林-巴利綜合征)
95Hereditary Angiodema (HAE) (遺傳性血管性水腫症)
96Hereditary Spastic Paraplegia (HSP) (遺傳性痙攣性下身麻痺症)
97Hirschsprung's Disease (HD) (先天性巨結腸症)
98Huntington's Disease (HD) (亨丁頓舞蹈症)
99Ichthyosis (斑色魚鱗癬症)
100Idiopathic Intracranial Hypertension (IIH) (特發性顱內壓增高症)