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)
72q37 Microdeletion Syndrome (Genetic Disorder)
83q23 & 3q25 Deletion Syndrome (Genetic Disorder)
98p Inverted Duplication/Deletion Syndrome (Invdupdel(8p)) (Genetic Disorder)
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)