33Cardiofaciocutaneous Syndrome (CFC)
34Castleman Disease (CD) (卡斯爾曼氏症)
35Central Core Disease (CCD) (肌中央軸空症)
36Charcot-Marie-Tooth Disease (CMT) (腓骨肌萎縮症)
37Chronic Hemolytic Anemia (慢性溶血性貧血症)
38Chronic Inflammatory Demyelinating Polyneuropathy (CIPD) (慢性脫髓鞘性神經炎)
39Cockayne Syndrome (柯凱因氏症)
40Coenzyme Q10 Deficiency-7 (Genetic Disorder)
41Collagen XII Myopathy (膠原蛋白XII缺失肌肉萎縮症)
42Cone-rod Dystrophy (視幹細胞營養不良症)
43Congenital Glaucoma (先天性青光眼)
45Congenital Muscular Dystrophy (CMD) (先天性肌营养不良症)
46Costello Syndrome (克斯提洛氏彈性蛋白質缺陷症)
47Cri Du Chat Syndrome (貓哭症)
48Crohn's Disease (克隆氏症)
49CTNNB1 Syndrome (Genetic Disorder)
50Cushing's Syndrome (CS) (庫欣氏症)