21Anti-NMDA Encephalitis (自體免疫性腦炎)
22Apert Syndrome (亞伯氏症候群)
23Aplastic Anemia (AA) (再生不良性貧血症)
24Aromatic L-amino Acid Decarboxylase Deficiency (AADC) (芳香族L-胺基酸類脫羧基酶缺乏症)
25Arthrogryposis Multiplex Congenita (AMC) (先天性多發性關節攣縮症)
26ATAD3A Syndrome (Genetic Disorder)
27ATR-X Thalassemia Syndrome (ATRX) (α地中海贫血X-連鎖智力障碍症)
28Atypical Hemolytic Uremic Syndrome (aHUS) (非典型溶血性尿毒症侯群)
29Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) (Charlevoix-Saguenay型隐性痙攣性共濟失調症)
30Behcet's Disease (BD) (貝賽特氏症)
31Bilateral Perisylvian Polymicrogyria (BPP) (雙側西耳維厄斯周圍多小腦回畸形症)
32Burning Mouth Syndrome (BMS) (口腔灼熱症侯群)
33Cardiofaciocutaneous Syndrome (CFC) (CFC症侯群)
34Castleman Disease (CD) (卡斯爾曼氏症)
35Central Core Disease (CCD) (肌中央軸空症)
36Charcot-Marie-Tooth Disease (CMT) (進行性神經性腓骨肌萎縮症)
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 (柯凱因氏症侯群)
40Coenzyme Q10 Deficiency-7 (Genetic Disorder)