110q26 Microdeletion Syndrome (Genetic Disorder)
214q Deletion Syndrome (Genetic Disorder)
316q11.2 & q22.2 Deletion Syndrome (Genetic Disorder)
418q21.2x3 Deletion Syndrome (Genetic Disorder)
51p36 Deletion Syndrome (Genetic Disorder)
61q44 Deletion Syndrome (Genetic Disorder)
73q23 & 3q25 Deletion Syndrome (Genetic Disorder)
88p Inverted Duplication/Deletion Syndrome (Invdupdel(8p)) (Genetic Disorder)
9Achondroplasia (軟骨發育不全症)
10Acromegaly (肢端肥大症)
11Albinism (白化病)
12Alexander Disease (亞歷山大症)
13Allan-Herndon-Dudley Syndrome (AHDS) / MCT8 Deficiency (MCT8缺乏症)
14Alstrome Syndrome (AS) (阿爾斯特倫綜合症)
15Alveolar Soft Part Sarcoma (ASPS) (肺泡狀軟組織肉瘤)
16Amyloidosis (AL) (類澱粉沉積症)
17Amyotrophic Lateral Sclerosis (ALS) (肌萎縮性脊髓側索硬化症)
18Angelman Syndrome (AS) (天使綜合症)
19Anomalous origin of Left Coronary Artery from Pulmonary Artery (ALCAPA) (肺動脈左冠狀動脈異常症)
20Anti-MOG Associated Encephalomyelitis (抗MOG相關腦脊髓炎)