MedGen is one of the three NCBI databases that are intended for healthcare professionals and researchers who are focusing on genetic disease. It contains information about human disorders and other phenotypes having a genetic component. Search MedGen to:

• find standardized terms (and their positions in term hierarchies) for conditions and phenotypes
• find a condition by its name, causative gene, or clinical feature
• find all disorders that have a specific clinical feature or combination of features
• find professional practice guidelines for a disorder
• link to the related information in ClinVar and GTR
• access several related literature and/or clinical resources:
  • GeneReviews^®: an expert-authored book with individual chapters dedicated to individual genetic diseases; encompassing diagnosis, management, and genetic counseling
  • Online Mendelian Inheritance in Man^® (OMIM): an online catalog with records on disorders, associated genes, and allelic variants
  • Orphanet: a web portal that includes expert reviews on individual genetic diseases in several European languages
  • biomedical literature databases at NCBI: PubMed, PubMed Clinical Queries, and PubMed Central^® (PMC) 
  • ClinicalTrials.gov: a database that provides a registry and results of clinical studies with human participants
  • consumer resources for your patients, such as: MedlinePlus Genetics, Office of Rare Diseases Research, and Genetic Alliance