is an Aggregator.
NCBI's portal to information about conditions, phenotypes, and findings in humans related to medical genetics. Aggregates and organizes data from multiple authoritative sources including UMLS, OMIM, HPO, Mondo, Orphanet, GeneReviews, PharmGKB, and community submissions to GTR and ClinVar. Each concept is assigned a distinct Concept Unique Identifier (CUI) and integrated with related information from clinical resources, genetic testing registries, medical literature, and molecular resources.
genomics, clinical, health, biomedical
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infores:medgen
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| medgen.portal | MedGen Portal | medgen | GraphicalInterface | http | Main web portal for searching and bro... |
| medgen.search | Advanced Search | advanced | GraphicalInterface | http | Advanced search interface with suppor... |
| medgen.mgconso | MGCONSO (Concept Names) | MGCONSO.RRF.gz (14.9 MB) | Product | txt | Rich Rich Format file containing conc... |
| medgen.mgdef | MGDEF (Definitions) | MGDEF.RRF.gz (4.7 MB) | Product | txt | Rich Rich Format file containing defi... |
| medgen.mgrel | MGREL (Relationships) | MGREL.RRF.gz (14.9 MB) | MappingProduct | txt | Rich Rich Format file containing rela... |
| medgen.mgsat | MGSAT (Attributes) | MGSAT.RRF.gz (11.2 MB) | Product | txt | Rich Rich Format file containing attr... |
| medgen.mgsty | MGSTY (Semantic Types) | MGSTY.RRF.gz (1.6 MB) | Product | txt | Rich Rich Format file containing sema... |
| medgen.names | NAMES | NAMES.RRF.gz (2.9 MB) | Product | txt | Rich Rich Format file containing conc... |
| medgen.id-mappings | MedGen ID Mappings | MedGenIDMappings.txt.gz (5.3 MB) | MappingProduct | txt | Mappings between MedGen CUIs and exte... |
| medgen.hpo-mapping | MedGen HPO Mapping | MedGen_HPO_Mapping.txt.gz (376.4 KB) | MappingProduct | txt | Mappings between MedGen and Human Phe... |
| medgen.hpo-omim-mapping | MedGen HPO OMIM Mapping | MedGen_HPO_OMIM_Mapping.txt.gz (3.8 MB) | MappingProduct | txt | Combined mappings between MedGen, HPO... |
| medgen.pubmed-links | MedGen PubMed Links | medgen_pubmed_lnk.txt.gz (229.3 MB) | Product | txt | Links between MedGen concepts and Pub... |
| medgen.cui-history | MedGen CUI History | MedGen_CUI_history.txt (17.8 KB) | Product | txt | History file tracking changes to MedG... |
| medgen.hpo-history ⚠ | HPO CUI History | HPO_CUI_history.txt | Product | txt | History file tracking changes to HPO ... |
| medgen.mondo-history ⚠ | Mondo CUI History | MONDO_CUI_history.txt | Product | txt | History file tracking changes to Mond... |
| medgen.ordo-history ⚠ | ORDO CUI History | ORDO_CUI_history.txt | Product | txt | History file tracking changes to Orph... |
| medgen.sources | MedGen Sources | MedGen_Sources.txt (3.5 KB) | Product | txt | Information about source databases an... |
| medgen.merged | MERGED (Merged CUIs) | MERGED.RRF.gz (43.1 KB) | Product | txt | Merged CUI mappings showing concept c... |
| medgen.csv | CSV Data Files | csv | Product | csv | CSV format data files directory with ... |
| medgen.help | MedGen Documentation | overview | DocumentationProduct | http | Documentation, help pages, and user g... |
| medgen.faq | FAQ | faq | DocumentationProduct | http | Frequently asked questions about MedGen |
| medgen.readme | README | README.txt (5.2 KB) | DocumentationProduct | txt | README file with detailed information... |
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| pheknowlator.graph | PheKnowLator graph | knowledge_graphs?pageState=(%22StorageObjectListTable%22:(%22f%22:%22%255B%255D%22))&inv=1&invt=Ab5_1Q&project=pheknowlator | GraphProduct | owl | PheKnowLator graph files, including s... |
| ncbigene.mim2gene_medgen | MIM to Gene MedGen Mapping | mim2gene_medgen (932.6 KB) | MappingProduct | tsv | MIM to Gene and MedGen mapping data c... |
Created: January 01, 2010 | Last modified: October 21, 2025