- Aarskog syndrome
- Aase syndrome
- Abetalipoproteinemia
- Acardia
- Accutane embryopathy
- Achondrogenesis
- Achondroplasia
- ACHOO syndrome
- Acid maltase deficiency
- Acrocallosal syndrome
- Acromegaly
- Adams-Oliver syndrome
- Adrenoleukodystrophy
- Aicardi syndrome
- Alagille syndrome
- Albinism
- Alcoholism
- Alkaptonuria
- Alpha-1 antitrypsin
- Alzheimer disease
- Amelia
- Amniocentesis
- Amyotrophic lateral sclerosis
- Androgen insensitivity syndrome
- Anemia, sideroblastic X-linked
- Anencephaly
- Angelman syndrome
- Ankylosing spondylitis
- Apert syndrome
- Arginase deficiency
- Arnold-Chiari malformation
- Arthrogryposis multiplex congenita
- Arthropathy-camptodactyly syndrome
- Asperger syndrome
- Asplenia
- Asthma
- Ataxia-telangiectasia
- Attention deficit hyperactivity disorder
- Autism
- Azorean disease
- Bardet-Biedl syndrome
- Batten disease
- Beals syndrome
- Beare-Stevenson cutis gyrata syndrome
- Beckwith-Wiedemann syndrome
- Beta thalassemia
- Bicuspid aortic valve
- Biotinidase deficiency
- Bipolar disorder
- Bloom syndrome
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