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NCBI Resources: MedGen

Contains information about the NCBI databases to be used as a teaching tool.

MedGen Unique Identifiers

  • MedGen UID: (6 digit number), identifier within the MedGen database
  • Concept ID: CXXXXXXX, identifier within the Unified Medical Language System (UMLS)

Boolean Operators

Boolean operators allow you to combine search terms: 

  • AND: Finds documents that contain both terms.
  • OR: Finds documents that contain either term. 
  • NOT: Finds documents that contain the term on the left but not the term on the right.

Advanced Search

By default, Entrez searches your text in "All fields", which looks for the text anywhere in the entry. So if you're getting irrelevant results, try limiting your text to a particular field.

Don't know what fields you can search for? Use the Advanced search

1. Click on advanced beneath the search bar. 

2. Click the drop down menu under Builder to see what fields are stored in gene records.

This is a comprehensive list of all fields you can search for. Fields will vary by database. Example shown here is for the Gene database. 

Need help? Ask Wlad

Searching MedGen

You can search MedGen by...

  • Clinical Features: short stature[clinical features] - records for diseases that are associated with short stature
  • Related Genes: LMNB1[gene] - diseases associated with this gene
  • Disease name: achrondroplasia[title] - this disease
  • Chromosome: 6[chromosome]- diseases associated with alterations to chromosome 6

These fields can be combined do refine your search.

MedGen results

After submitting your search, a list of results will appear with MedGen records that match your query. The results page is divided into 2 columns:

  1. Results: a list of the records that match your query with basic information
  2. Discovery Column: links to other databases and Search details, as well as custom filters

The record preview contains a title, description, unique identifiers, and links to external databases.

Click on the title of the record to access the full record.

MedGen records

MedGen records can be divided into 2 general categories: diseases/conditions and findings/symptoms

Disease/condition records contain the following information:

Findings/symptom records contain the following information:

You can also use the links on the right sidebar to navigate through sections of the entry (Table of Contents), find genetic tests in the Genetic Testing Registry, and explore links to clinical and molecular resources and other related information.