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Health

Resources about genetic diseases and the importance of knowing your family health history.

Genetic Disorders

Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.

For Patients and Families

A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.

For Patients and Families

List of resources to help you find accurate and reliable information on genetic and rare diseases.

For Patients and Families

A list of resources and information on financial aid for medical treatment.

For Patients and Families

The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.

Genetic Disorders

Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.

Genetic Disorders

Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.

For Patients and Families

Las pruebas genéticas usan métodos de laboratorio para estudiar sus genes.

Genetic Disorders

Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.