Domains

health, genomics

License

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Homepage

ghr

Repository

Unknown

Infores ID

infores:ghr

FAIRsharing ID

Unknown

Product Summary

Contacts

US National Library of Medicine

URL: https://www.nlm.nih.gov/

Products

From this Resource

ID	Name	URL	Category	Format	Description
ghr.portal	MedlinePlus Genetics Portal	genetics	GraphicalInterface	http	MedlinePlus Genetics portal containin...
ghr.conditions	MedlinePlus Genetics Conditions	condition	GraphicalInterface	http	Browse page for genetic conditions fr...
ghr.gene-catalog	MedlinePlus Genetics Gene Catalog	gene	GraphicalInterface	http	Browse page for gene summaries from t...

Details

Genetics Home Reference

Overview

Genetics Home Reference (GHR) was a consumer health resource provided by the US National Library of Medicine (NLM) that offered information about genetic conditions and the genes or chromosomes related to those conditions. GHR provided health information in plain language to help patients, families, and healthcare providers understand how genetic variations affect health.

Important: As of 2020, Genetics Home Reference has been merged into MedlinePlus Genetics (https://medlineplus.gov/genetics/), which now serves as the primary NLM consumer genetics resource.

Historical Content

Genetic Conditions

GHR provided consumer-friendly information about more than 1,300 genetic conditions, including:

Signs and symptoms
Frequency in populations
Genetic causes
Inheritance patterns
Treatment and management

Genes and Chromosomes

The resource offered information about:

More than 1,400 genes
Gene function and location
How gene changes relate to health conditions
All 23 pairs of human chromosomes
Mitochondrial DNA (mtDNA)

Educational Content

Help Me Understand Genetics

A comprehensive educational section covering:

DNA structure and function
What genes are and how they work
Genetic mutations and variants
Inheritance patterns
Genetic testing and counseling
Precision medicine and genomic research

Key Features

Plain Language: Written for patients and families without requiring scientific expertise
Comprehensive Coverage: Covered common and rare genetic conditions
Evidence-Based: Information reviewed by genetics professionals
Cross-Referenced: Links to genes, chromosomes, and related conditions
Educational: Explained complex genetic concepts accessibly

Transition to MedlinePlus Genetics

In 2020, NLM integrated Genetics Home Reference into MedlinePlus Genetics to:

Consolidate consumer genetics information
Improve user experience through single portal
Enhance searchability and navigation
Integrate with broader MedlinePlus health resources
Maintain and expand genetics content

Current Access

All former GHR content is now available at:

Website: https://medlineplus.gov/genetics/
Genetic Conditions: https://medlineplus.gov/genetics/condition/
Genes: https://medlineplus.gov/genetics/gene/
Chromosomes: https://medlineplus.gov/genetics/chromosome/
Understanding Genetics: https://medlineplus.gov/genetics/understanding/

Legacy Impact

GHR served for many years as a trusted resource for:

Patients and families learning about genetic conditions
Healthcare providers seeking patient education materials
Students and educators in genetics education
Researchers needing plain-language genetic information

Information Resource ID

This resource has the Information Resource identifier: infores:ghr

Recommended Alternative

Users seeking genetics consumer health information should visit MedlinePlus Genetics at https://medlineplus.gov/genetics/, which maintains and expands upon the content formerly available in Genetics Home Reference.

ghr