101Guillain-Barré Syndrome (GBS) (格林-巴利綜合征)
102Hereditary Angiodema (HAE) (遺傳性血管性水腫症)
103Hereditary Spastic Paraplegia (HSP) (遺傳性痙攣性下身麻痺症)
104Hirschsprung's Disease (HD) (先天性巨結腸症)
105Huntington's Disease (HD) (亨丁頓舞蹈症)
106Ichthyosis (斑色魚鱗癬症)
107Idiopathic Intracranial Hypertension (IIH) (特發性顱內壓增高症)
108Idiopathic Multicentric Castleman Disease (iMCD) (特發性多中心卡斯特曼病)
109Idiopathic Pulmonary Fibrosis (IPF) (特發性肺纖維化)
110Idiopathic Thrombocytopenic Purpura (ITP) (自發性血小板缺乏紫斑症)
111IgG4-related Chronic Sclerosing Sialadenitis
112Interstitial Lung Disease (ILD) (間質性肺病)
113Intravenous Leiomyomatosis (IVL) (静脉内平滑肌瘤)
114Jacobsen Syndrome (JS) (雅各森症候群)
115Kabuki Syndrome - Type 2 (KDM6A) (歌舞伎症候群-第2型)
116Kallmann Syndrome (KS) (卡爾曼氏症)
117KCNB1 Syndrome (Genetic Disorder)
118KCNQ2 Syndrome (Genetic Disorder)
119Kennedy Disease (甘迺迪氏症) / Spinal and Bulbar Muscular Atrophy (SBMA) (脊髓延髓性肌肉萎縮症)
120KID Syndrome (heterogenous variant in GJB2) (綜合症魚鱗病)