10Achondroplasia (軟骨發育不全症)
11Acromegaly (肢端肥大症)
12Albinism (白化病)
13Alexander Disease (亞歷山大症)
14Allan-Herndon-Dudley Syndrome (AHDS) / MCT8 Deficiency (MCT8缺乏症)
15Alstrome Syndrome (AS) (阿爾斯特倫綜合症)
16Alveolar Soft Part Sarcoma (肺泡狀軟組織肉瘤)
17Amyloidosis (AL) (類澱粉沉積症)
18Amyotrophic Lateral Sclerosis (ALS) (肌萎縮性脊髓側索硬化症)
19Angelman Syndrome (AS) (天使綜合症)
20Anomalous origin of Left Coronary Artery from Pulmonary Artery (ALCAPA) (肺動脈左冠狀動脈異常症)
21Anti-MOG Associated Encephalomyelitis (抗MOG相關腦脊髓炎)
22Anti-NMDA Encephalitis (自體免疫性腦炎)
23Antisynthetase Syndrome Associated Interstitial Lung Disease (抗合成酶綜合症併間質性肺病)
24Apert Syndrome (亞伯氏症)
25Aplastic Anemia (再生不良性貧血症)
26Aromatic L-amino Acid Decarboxylase Deficiency (AADC) (芳香族L-胺基酸類脫羧基酶缺乏症)
27Arthrogryposis Multiplex Congenita (AMC) (先天性多發性關節攣縮症)
28ATAD3A Syndrome (Genetic Disorder)
29ATR-X Thalassemia Syndrome (ATRX) (α地中海贫血X-連鎖智力障碍症)