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