is a Data Source.
GeneReviews is an expert-authored, peer-reviewed collection of disease descriptions for inherited conditions, covering diagnosis, management and genetic counseling. It is edited at the University of Washington, Seattle and published on the NCBI Bookshelf, with about 890 chapters as of 2026-10-04. NCBI also publishes weekly-updated mapping files linking each chapter to its NCBI Bookshelf id, PubMed id, genes, UniProt accessions and OMIM numbers.
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| genereviews.portal | GeneReviews on NCBI Bookshelf | NBK1116 | Graphical Interface | http | GeneReviews collection on the NCBI Bo... |
| genereviews.titles | GeneReviews Titles | GRtitle_shortname_NBKid.txt (21.0 KB) | Product | tsv | Tab-delimited list of GeneReviews cha... |
| genereviews.omim | GeneReviews to OMIM Mapping | NBKid_shortname_OMIM.txt (24.4 KB) | Mapping | tsv | Tab-delimited mapping of GeneReviews ... |
| genereviews.genes | GeneReviews to Gene Symbol Mapping | NBKid_shortname_genesymbol.txt (17.1 KB) | Mapping | tsv | Tab-delimited mapping of GeneReviews ... |
| genereviews.genes-uniprot | GeneReviews to Gene Symbol and UniProt Mapping | NBKid_shortname_genesymbol_UniProt.txt (23.5 KB) | Mapping | tsv | Tab-delimited mapping of GeneReviews ... |
| genereviews.genes-diseases | GeneReviews Gene and Disease Name Mapping | GRshortname_NBKid_genesymbol_dzname.txt (28.6 KB) | Mapping | txt | Pipe-delimited mapping of GeneReviews... |
| genereviews.readme | GeneReviews Data README | README.html | Documentation | http | README for the GeneReviews data repor... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| medgen.mgconso | MGCONSO (Concept Names) | MGCONSO.RRF.gz (15.1 MB) | Product | txt | had primary source | Rich Release Format (RRF) file contai... |
| medgen.mgdef | MGDEF (Definitions) | MGDEF.RRF.gz (5.1 MB) | Product | txt | had primary source | Rich Release Format (RRF) file contai... |
GeneReviews is a collection of expert-authored, peer-reviewed chapters on inherited conditions. Each chapter covers diagnosis, management and genetic counseling for one condition or group of conditions. The collection is edited at the University of Washington, Seattle (first published in 1993) and is hosted on the NCBI Bookshelf.
NCBI publishes five data reports at https://ftp.ncbi.nlm.nih.gov/pub/GeneReviews/, updated weekly:
GRtitle_shortname_NBKid.txt: chapter short name, title, NBK id and PMID (tab-delimited).NBKid_shortname_OMIM.txt: chapter to OMIM number (tab-delimited).NBKid_shortname_genesymbol.txt: chapter to gene symbol (tab-delimited).NBKid_shortname_genesymbol_UniProt.txt: chapter to gene symbol and UniProt accession (tab-delimited).GRshortname_NBKid_genesymbol_dzname.txt: short name, NBK id, gene symbol and disease name (pipe-delimited, no header).GeneReviews chapters are owned by the University of Washington. The copyright notice permits reproduction, distribution and translation for noncommercial research purposes only, with credit to the source and copyright, a link to the original material, and compliance with the GeneReviews Copyright Notice and Usage Disclaimer. Excerpts for lab reports and clinic notes are a permitted use.
MedGen draws concept names, gene-disease relationships and descriptions from GeneReviews.
Created: October 04, 2026 | Last modified: October 04, 2026