37Cardiofaciocutaneous Syndrome (CFC) (CFC症侯群)
38Castleman Disease (CD) (卡斯爾曼氏症)
39Central Core Disease (CCD) (肌中央軸空症)
40Charcot-Marie-Tooth Disease (CMT) (進行性神經性腓骨肌萎縮症)
41Chronic Hemolytic Anemia (慢性溶血性貧血症)
42Chronic Inflammatory Demyelinating Polyneuropathy (CIPD) (慢性脫髓鞘性神經炎)
43Cockayne Syndrome (柯凱因氏症侯群)
44Coenzyme Q10 Deficiency-7 (Genetic Disorder)
45Collagen XII Myopathy (膠原蛋白XII缺失肌肉萎縮症)
46Complex Regional Pain Syndrome (CRPS) (複雜性局部疼痛症) / Reflex Sympathetic Dystrophy Syndrome (RSD) (交感神經失調症)
47Cone-rod Dystrophy (視幹細胞營養不良症)
48Congenital Bile Acid Synthesis (CBAS) (胆汁酸合成障碍)
49Congenital Glaucoma (先天性青光眼)
50Congenital Insensitivity to Pain with Anhidrosis (CIPA) (先天性痛不敏感症合併無汗症)
51Congenital Muscular Dystrophy (CMD) (先天性肌营养不良症)
52Cornelia De Lange Syndrome (CdLS) (狄蘭氏症侯群)
53Costello Syndrome (克斯提洛氏彈性蛋白質缺陷症)
54Cri-Du-Chat Syndrome (貓哭症)
55Crohn's Disease (克隆氏症)
56CTNNB1 Syndrome (Genetic Disorder)