MedGen
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| Database name: | |
| Alternative name: | - |
| URL: | |
| Database maintenance site: | NCBI (National Center for Biotechnology Information) |
| Country/Region: | United States |
| Database description: | 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) covered: | |
| Tag - Target: | Genome/Gene, Health/Disease |
| Tag - Information type: | Phenotype, Ontology/Terminology/Nomenclature, Bibliography/Documents |
| Reference(s) - PubMed ID/DOI: | - |
| Language(s): | English |
| Operational status: | Active |
| Link(s) to Downloadable data: | https://ftp.ncbi.nlm.nih.gov/pub/medgen/ |
| Link(s) to Metadata of downloadable data: | https://ftp.ncbi.nlm.nih.gov/pub/medgen/README.txt |
| Link(s) to Terms of use: | 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[at]ncbi[dot]nlm[dot]nih[dot]gov |
| Link(s) to API / SPARQL endpoint | https://www.ncbi.nlm.nih.gov/medgen/docs/help/#api |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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- |
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Similar databases:
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HPO eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network PubCaseFinder MalaCards biocaster-ontology MONDO Electronic Medical Records and Genomics NanbyoData ClinVar |
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Record maintainer
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Integbio Database Catalog |
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Record source:
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Date of creation of this record:
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2021-03-10 |
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Last update date of this record:
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2021-05-24 |
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Record license:
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Creative Commons CC0 license |