10Achondroplasia (軟骨發育不全症)
11Acromegaly (肢端肥大症)
12ACTA1-related Congenital Myopathy (Genetic Disorder)
13Alagille Syndrome (阿拉吉歐氏症)
14Albinism (白化病)
15Allan-Herndon-Dudley Syndrome (AHDS) / MCT8 Deficiency (MCT8缺乏症)
16Alstrom Syndrome (AS) (阿爾斯特倫綜合症)
17Alveolar Soft Part Sarcoma (肺泡狀軟組織肉瘤)
18Amyloidosis (AL) (類澱粉沉積症)
19Amyotrophic Lateral Sclerosis (ALS) (肌萎縮性脊髓側索硬化症)
20Angelman Syndrome (AS) (天使綜合症)
21Angiosarcoma (血管肉瘤)
22Anomalous origin of the Left Coronary Artery from Pulmonary Artery (ALCAPA) (肺動脈左冠狀動脈異常症)
23Anomalous origin of the Right Coronary Artery (AORCA) (右邊冠狀動脈畸形)
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)