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United States National Library of Medicine National Institutes of Health

Fact Sheet
Genetics Home Reference

What is the Genetics Home Reference?

The Genetics Home Reference is the National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.

How do I find the Genetics Home Reference?

The Genetics Home Reference is available on the World Wide Web at or through links on MedlinePlus® (

What information is in the Genetics Home Reference?

Genetic Condition Summaries
Each summary provides a concise definition of a genetic condition and a brief description of signs and symptoms. The genetic cause of the condition, its frequency, and pattern of inheritance are also explained. In addition, each summary links directly to related genes or chromosomes and to more detailed information about the condition.
Gene Summaries
Each summary provides the official name and symbol of a gene, its chromosomal location, and an explanation of its normal function and how mutations in the gene cause particular genetic conditions. Each gene summary links directly to related genetic conditions and to related chromosomes.
Chromosome Summaries
Chromosome summaries provide an estimate of the amount of DNA and the number of genes for each chromosome. Chromosomal conditions link directly to related chromosomes, which explain how changes in the number or structure of chromosomes can lead to certain disorders.
Help Me Understand Genetics
This feature is an illustrated, basic explanation of how genes work and how mutations cause disorders. It also includes current information about genetic testing, gene therapy, and the Human Genome Project.
Each Web page links to a glossary of genetic and medical terms. In addition, each summary provides a list of glossary terms used on the page, with a direct link to their definitions.

How are topics selected for the Genetics Home Reference?

The main health topics in MedlinePlus that have a genetic component are selected for inclusion in the Genetics Home Reference.

How are Web links selected for the Genetics Home Reference?

The Genetics Home Reference links to health information from the National Institutes of Health and other selected resources that are free, reputable, and current. The selection criteria are available from each Web page.

Genetics Home Reference facts

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Last updated: 05 August 2004
First published: 05 August 2003
Metadata| Permanence level: Permanent: Stable Content