101Glycogen Storage Disease (GSD) - Type 1B (肝醣儲積症第1B型)
102Glycogen Storage Disease (GSD) - Type 2 (肝醣儲積症第2型) / Pompe Disease (龐貝氏症)
103Glycogen Storage Disease (GSD) - Type 6 (肝醣儲積症第6型)
104Glycogen Storage Disease (GSD) - Type 9A (Pathogenic Variant) (肝醣儲積症第9A型)
105Guillain-Barré Syndrome (GBS) (格林-巴利綜合征)
106Hereditary Angiodema (HAE) (遺傳性血管性水腫症)
107Hereditary Spastic Paraplegia (HSP) (遺傳性痙攣性下身麻痺症)
108Hirschsprung's Disease (HD) (先天性巨結腸症)
109Huntington's Disease (HD) (亨丁頓舞蹈症)
110Ichthyosis (斑色魚鱗癬症)
111Idiopathic Intracranial Hypertension (IIH) (特發性顱內壓增高症)
112Idiopathic Multicentric Castleman Disease (iMCD) (特發性多中心卡斯特曼病)
113Idiopathic Pulmonary Fibrosis (IPF) (特發性肺纖維化)
114Idiopathic Thrombocytopenic Purpura (ITP) (自發性血小板缺乏紫斑症)
115IgG4-related Chronic Sclerosing Sialadenitis
116Interstitial Lung Disease (ILD) (間質性肺病)
117Intravenous Leiomyomatosis (IVL) (静脉内平滑肌瘤)
118Jacobsen Syndrome (JS) (雅各森症候群)
119Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
120Kallmann Syndrome (KS) (卡爾曼氏症)