NCBI MedGen

MedGen collects information about diseases and conditions with a genetic contribution. It provides information on phenotypes and vocabulary and links to a wide range of related information.

If you have a list of clinical features (symptoms or complaints), start in MedGen.

This tutorial demonstrates how to locate genetic information for a clinical symptom or feature.

Click Next to begin.

MedGen Search

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Try searching MedGen for: dyskinesia

MedGen Search

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Look through your results summary.

Results in MedGen can include:

• Sign or Symptom
• Disease or Syndrome
• Finding
• Neoplastic Process
• Laboratory Result
• Body System

Each concept is labeled as such.

If we want to narrow our search to find diseases or disorders that include dyskinesia as a clinical feature, we could use the shortcut at the top of our results labled See MedGen results with dyskinesia as a clinical feature.

Follow that link now.

MedGen Search

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The results are those records where dyskinesia is listed as a clinical feature.

We could also search by multiple features at once.

For example, add: ataxia dystonia to the search box and click search.

MedGen Search

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Click on Childhood onset GLUT1 deficiency syndrome 2 to view that record.

MedGen Record

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The first part of the record includes the concept ID from the Unified Medical Language System (UMLS).

The UMLS allows information system developers to connect a medical concept throughout different information systems because it links hundreds of medical vocabularies together using these Concept IDs.

Below the unique identifiers, MedGen shows synonyms for the concept, modes of inheritance, link(s) to the Gene database, and links to the Monarch Initiative and OMIM.

MedGen Record

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In the Disease Characteristics section, you will see definitions and descriptions of the disease from different sources, which may include:

• GeneReviews: A point-of-care reference that provides diagnosis, testing and management information on genetic conditions for clinicians.
• OMIM: Overviews on the relationship between phenotype and genotype, for physicians, researchers and students.

Depending on your needs you may want to follow the links to read more from each resource.

MedGen Record

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Below the descriptions are the Clinical features, which we searched when limiting to dyskinesia as a clinical feature. Expand the categories to see each feature.

Click the link to see a definition.

MedGen Record

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The Term Hierarchy shows conceptual hierarchies in major vocabularies, but also links to relevant genetic testing information from the Genetic Testing Reference (GTR) and genetic variation information from the NCBI ClinVar database.

MedGen Record

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The Recent clinical studies section consists of journal literature citations selected from the PubMed Clinical Queries to provide current, relevant information on this genetic condition.

There are sections on Etiology, Diagnosis, Therapy, Prognosis, and Clinical prediction guides.

Conclusion

Congratulations! You now know how to locate genetic information for a clinical symptom or feature using NCBI MedGen.

You can now close the NLM Navigator windows.