If you use NCBI’s MedGen then you probably know it is your one-stop-shop for access to genetic phenotype information. If you’re new to the resource, check us out! 

MedGen is improving the usability of the website and enhancing its data processing abilities. We want to hear from you to help us improve MedGen to better meet your needs. 

Let us know:  

• How you currently use MedGen  
• How we can make MedGen more useful to you 

If you are a healthcare provider, genetic professional, researcher, or anyone who uses MedGen, please email the MedGen team at medgen_help@ncbi.nlm.nih.gov. 

MedGen serves the medical genetics community by: 

• Displaying information from authoritative sources and providing links to useful, actionable information  
• Allowing you to search by clinical features to find disease records  
• Showing a list of clinical features for a disease, the causative genes, and links to professional practice guidelines and relevant articles in PubMed and on NCBI’s Bookshelf  
• Providing information on infectious diseases (since 2020) 
• Standardizing phenotypic data and serving as the phenotype backbone for ClinVar and Genetic Testing Registry (GTR)  
• Mapping disease concepts and attributes from terminologies and ontologies into a single record   

MedGen data is available for you to use in your own projects. Contact us if you want help adopting the MedGen dataset or linking to our comprehensive disease pages.