Database Record
MedGen
| IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. | NBDC02560 |
|---|---|
| Database nameName of the database | MedGen |
| Alternative nameAlternative name of the database | ― |
| URLURL of the database | https://www.ncbi.nlm.nih.gov/medgen/ |
| Database maintenance siteSite maintaining the database | NCBI (National Center for Biotechnology Information) |
| Country/RegionCountry or region name where the database maintenance site is located | United States |
| Database descriptionDatabase descirption | MedGen is a portal database about conditions and phenotypes related to Medical Genetics. It aggregates terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources into concepts, and assigns a unique identifier and a preferred name and symbol. Each entry includes names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. This database 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. |
| Organism(s) coveredNCBI Taxonomy names and IDs covered by the database | Homo sapiens (9606) |
| Tag - TargetTag to indicate targets for this database such as genome and protein |
Genome/Gene
cDNA/EST
Genetic variation
Epigenetics
DNA
RNA
Protein
Carbohydrate
Lipid
Metabolite
Chemical compound
Drug
Cell/Organelle
Organism
Health/Disease
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| Tag - Information typeTag to indicate information types for this database such as sequence and structure |
Phenotype
Bioresource
Method
Ontology/Terminology/Nomenclature
Environment
Sequence
3D structure
Chemical structure
Expression
Localization
Geographic Distribution
Interaction/Pathway
Taxonomy
Classification
Image/Movie
Bibliography/Documents
Portal
Repository
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| Reference(s) - PubMed ID/DOIPubMed IDs/DOI for papers related to the database | ― |
| Language(s)Languages in which the contents of the database are displayed | English |
| Operational statusOperational status for the database | Active |
| Link(s) to Downloadable dataLinks to downloadable data | https://ftp.ncbi.nlm.nih.gov/pub/medgen/ |
| Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data | https://ftp.ncbi.nlm.nih.gov/pub/medgen/README.txt |
| Link(s) to Terms of useLinks to terms of use of downloadable data | https://www.ncbi.nlm.nih.gov/home/about/policies/ |
| Link(s) to "How to use" | https://www.ncbi.nlm.nih.gov/medgen/docs/help/#start |
| Contact information of database | medgen_help@ncbi.nlm.nih.gov |
| Link(s) to API / SPARQL endpoint | https://www.ncbi.nlm.nih.gov/medgen/docs/help/#api |
| Link to LSDB ArchiveLink to LSDB Archive | ― |
| Link to MEDALS Database listLink to MEDALS Database list | ― |
| Link to TogoTVLink to TogoTV | ― |
| Link to FAIRsharingLink to FAIRsharing | ― |
| Similar databasesDatabases that are similar to this database. | |
| Record maintainerRecord maintainer | Integbio Database Catalog |
| Record sourceOrganization that originally created the record |
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| Date of creation of this recordDate of creation of this English record | 2021-03-10 |
| Last update date of this recordLast update date of this English record | 2021-05-24 |
| Record license | Creative Commons CC0 license |