NCBI Resources

MedGen is an aggregator database which serves as a single entry point for finding information based on human diseases and conditions.  Information and links are presented from diverse and reputable sources providing:

• disease summaries
• terms and codes
• clinical literature
• clinical practice guidelines
• diagnostic tests (including genetic tests)
• patient education materials

In the MedGen Advanced Search Builder, you can focus your search by using indexes in the following fields:

• Chromosome [chr]
• Clinical features [clinfeat] 
• Definition [defn] : terms occurring in the definition of the disorder
• Gene Name [gene]
• MIM [mim] : the Mendelian Inheritance in Man number associated with the record
• Title [title] : an word in the title of a MedGen Record

You can find the complete list of searchable fields on the MedGen Help page. 

Search results in MedGen can be used to answer queries from many different user groups and will vary in number.  

You can filter results by records available in different databases, including Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), Orphanet, and Human Phenotype Ontology (HPO).  You can also filter to results categorized as diseases or syndromes.

Full reports will vary in length based on their category: finding; neoplastic process; disease or syndrome; mental or behavioral dysfunction; amino acid, peptide, or protein; biologically active substance, and more.  If a result has linked GTR, ClinVar, Genes, OMIM, or GeneReviews, you will most likely have a more in-depth full record.

Full Report for a Disease or Syndrome; Mental or Behavioral Dysfunction

The recent clinical studies section pulls articles from PubMed about the disease or condition.  These are often separated by article focus into the following clinical study categories: 

• Etiology
• Diagnosis
• Therapy
• Prognosis
• Clinical prediction guides
• Systematic Reviews

The right hand menu discovery panel includes links to:

• genetic testing registry records
• outreach and support
• clinical and molecular resources
• reviews
• related information

Full Report for Disease or Condition

These reports will also have the PubMed article searches. 

The disease characteristics section is taken from GeneReviews with links to the full text in GeneReview below the summary statement.

The additional descriptions are taken from OMIM.

Clinical features data are provided from either the Human Phenotype Ontology (HPO) or OMIM.  If you hover over any item in the list, a pop-up will display the definition of the term and provide further links.

The term hierarchy is constructed based on relationships reported for each concept as direct or indirect links between terms from vocabulary sources.  Any available links to clinical tests, research rests, OMIM, or GeneReviews are also included.

Professional guidelines are curated by staff at NCBI.