Rsrc
J-GLOBAL ID:202110017326123771   Research Resource code:NBDC02560 Update date:Mar. 10, 2021

MedGen

MedGen
Owning Organization:
  • National Center for Biotechnology Information (NCBI)
Resource classification: Database
Tag (subject)  (2): Genome/Gene ,  Health/Disease
Tag (data type)  (3): Phenotype ,  Ontology/Terminology/Nomenclature ,  Bibliography/Documents
Species (1): Homo sapiens (NCBI Taxonomy ID: 9606)
Overview:
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.
Source: NBDC
Record maintainer: Integbio Database Catalog
Record license: Creative Commons CC0 license

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