Also known as LDS or Loeys-Dietz aortic aneurysm syndrome, this is a disorder that affects the connective tissue in many parts of the body

Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body.

The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin)

Sickle cell disease is a group of red blood cell disorders that are passed down from your parents. This means that sickle cell a genetic disease, and