MedGen

MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. The concept identifier (CUI) is used to aggregate information about that concept, similar to the way NCBI Gene serves as a gateway to gene-related information.

MedGen provides links to such resources as: Genetic tests registered in the NIH Genetic Testing Registry (GTR), GeneReviews, ClinVar, OMIM, Related genes, Disorders with similar clinical features, Medical and research literature, Practice guidelines, Consumer resources, Ontologies such as HPO and ORDO.

Links to the GTR, GeneReviews, and Practice Guidelines are based on curation by NCBI staff. Other data feeds are automated, but reviewed by NCBI staff and informed by feedback from the community.

Data and Resources

Field Value
accessLevel public
bureauCode {009:25}
catalog_@context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
catalog_@id https://healthdata.gov/data.json
catalog_conformsTo https://project-open-data.cio.gov/v1.1/schema
catalog_describedBy https://project-open-data.cio.gov/v1.1/schema/catalog.json
identifier https://datadiscovery.nlm.nih.gov/api/views/csf9-pt6p
issued 2021-06-30
landingPage https://www.ncbi.nlm.nih.gov/medgen/
license http://opendefinition.org/licenses/odc-odbl/
modified 2025-06-18
programCode {009:041}
publisher National Library of Medicine
resource-type Dataset
source_datajson_identifier true
source_hash feb55ba4239da8e7eb8b410f491646aa2a8f87cae65fc78c740cc7e992a4d7b8
source_schema_version 1.1
theme {Biology}
Groups
  • AmeriGEOSS
  • National Provider
  • North America
Tags
  • AmeriGEO
  • AmeriGEOSS
  • CKAN
  • GEO
  • GEOSS
  • National
  • North America
  • United States
  • dataset
  • genetics
  • genomics
isopen False
license_id other-license-specified
license_title other-license-specified
maintainer National Library of Medicine
maintainer_email custserv@nlm.nih.gov
metadata_created 2025-09-23T19:18:59.817736
metadata_modified 2025-09-23T19:18:59.817741
notes MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. The concept identifier (CUI) is used to aggregate information about that concept, similar to the way NCBI Gene serves as a gateway to gene-related information. MedGen provides links to such resources as: Genetic tests registered in the NIH Genetic Testing Registry (GTR), GeneReviews, ClinVar, OMIM, Related genes, Disorders with similar clinical features, Medical and research literature, Practice guidelines, Consumer resources, Ontologies such as HPO and ORDO. Links to the GTR, GeneReviews, and Practice Guidelines are based on curation by NCBI staff. Other data feeds are automated, but reviewed by NCBI staff and informed by feedback from the community.
num_resources 2
num_tags 11
title MedGen