110q26 Microdeletion Syndrome (Genetic Disorder)
214q Deletion Syndrome (Genetic Disorder)
316q11.2 & q22.2 Deletion Syndrome (Genetic Disorder)
418q21.2x3 Duplication 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)
12ACTA1-related Congenital Myopathy (Genetic Disorder)
13Albinism (白化病)
14Alexander Disease (亞歷山大症)
15Allan-Herndon-Dudley Syndrome (AHDS) / MCT8 Deficiency (MCT8缺乏症)
16Alstrome 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)