MedGen: Your search engine for human medical genetics


MedGen is a free, comprehensive resource for one-stop access to essential information on phenotypic health topics related to medical genetics as collected from established high-quality sources. It integrates terminology from multiple primary ontologies (or nomenclatures) to facilitate standardization and more accurate results from search queries.

Some things you can do in MedGen:

  • Search for conditions based on individual terms or a set of clinical features
  • Obtain information on features that distinguish a syndrome/condition from other conditions
  • Access GeneReviews®, OMIM (Online Mendelian Inheritance in Man), PubMed (reviews, curated papers of interest, etc.), and consumer and pharmacogenetic resources
  • Access actionable information like professional guidelines from medical and authoritative societies, available tests in the NIH Genetic Testing Registry (GTR®), and clinical variants in ClinVar

If you’re at NSGC 2018, you can chat with the expert at poster B-158, “MedGen: Your Access to Medical Genetics Information” on Thursday, November 15, from 6-7:15 PM. This presentation will demonstrate how to leverage MedGen to facilitate the clinical genetic process and how to incorporate this data into EHRs to make it available in hospitals and clinics.

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