110q26 Microdeletion Syndrome (Genetic Disorder)
214q Deletion Syndrome (Genetic Disorder)
316q11.2 & q22.2 Deletion Syndrome (Genetic Disorder)
41p36 Deletion Syndrome (Genetic Disorder)
51q44 Deletion Syndrome (Genetic Disorder)
62q37 Microdeletion 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)
11ACTA1-related Congenital Myopathy (Genetic Disorder)
12Alagille Syndrome (阿拉吉歐氏症)
13Albinism (白化病)
14Allan-Herndon-Dudley Syndrome (AHDS) / MCT8 Deficiency (MCT8缺乏症)
15Alstrom 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)
20Angiosarcoma (血管肉瘤)