21Anomalous origin of Left Coronary Artery from Pulmonary Artery (ALCAPA) (肺動脈左冠狀動脈異常症)
22Anti-MOG Associated Encephalomyelitis (抗MOG相關腦脊髓炎)
23Anti-NMDA Encephalitis (自體免疫性腦炎)
24Antisynthetase Syndrome (抗合成酶綜合症)
25Apert Syndrome (亞伯氏症)
26Aplastic Anemia (再生不良性貧血症)
27Aromatic L-amino Acid Decarboxylase Deficiency (AADC) (芳香族L-胺基酸類脫羧基酶缺乏症)
28Arthrogryposis Multiplex Congenita (AMC) (先天性多發性關節攣縮症)
29ATAD3A Syndrome (Genetic Disorder)
30ATR-X Thalassemia Syndrome (ATRX) (α地中海贫血X-連鎖智力障碍症)
31Atypical Hemolytic Uremic Syndrome (aHUS) (非典型溶血性尿毒症)
32Autoimmune Insulin Syndrome (胰島素自身免疫綜合症)
33Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) (Charlevoix-Saguenay型隐性痙攣性共濟失調症)
34Behcet's Disease (BD) (貝賽特氏症)
35Bilateral Perisylvian Polymicrogyria (BPP) (雙側西耳維厄斯周圍多小腦回畸形症)
36Burning Mouth Syndrome (BMS) (口腔灼熱症侯群)
37Cardiofaciocutaneous Syndrome (CFC) (CFC症侯群)
38Central Core Disease (CCD) (肌中央軸空症)
39Charcot-Marie-Tooth Disease (CMT) (進行性神經性腓骨肌萎縮症)
40Chronic Hemolytic Anemia (慢性溶血性貧血症)