What is the GHR?
Genetics Home Reference is the National Library of Medicine Web site for consumer information about genetic conditions and the genes or chromosomes associated with those conditions.
- Genetic Condition Summaries
- Describes the major features of condition, provides information about the condition's genetic basis, and explains its pattern of inheritance.
- Gene Summaries
- Provides the official name and symbol of a gene, its chromosomal location, an explanation of its normal function, and the health implications of variations in the gene.
- Chromosome Summaries and mitochondrial DNA (mtDNA)
- Provides an estimate of the amount of DNA and number of genes for each chromosome. Each summary also provides information on how changes in the number or structure of the chromosome can lead to certain disorders.
- Help Me Understand Genetics
- Primer on human genetics that provides an illustrated, basic explanation of how genes work and how mutations cause disorders. It also includes information about genetic inheritance, gene families, the genetics of normal human traits, genetic testing (including newborn screening), gene therapy, genomics research, and precision medicine.