MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. The concept identifier (CUI) is used to aggregate information about that concept, similar to the way NCBI Gene serves as a gateway to gene-related information.
MedGen 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.
Links to the GTR, GeneReviews, and Practice Guidelines are based on curation by NCBI staff. Other data feeds are automated, but reviewed by NCBI staff and informed by feedback from the community.
An online edition of XML-encoded speeches, articles, and Congressional Appropriations testimonies by former NLM director Martin M. Cummings, based on the collection of his papers in HMD’s Modern Manuscripts collection.
The MeSH 2023 Update - Update (All Fields) Report lists each individual modification made to a Descriptor. More than one field on a term can be modified during YEP, resulting in a term having multiple entries on the list.
Information about retroviruses and specialized tools for the analysis of retroviral proteins and genomes. The tools on this page aid in the identification, study and analysis of retroviral genomes and proteins. For instance, the HIV, human interaction database catalogs and organizes published data in peer-reviewed journals regarding HIV-1 and human protein interactions. Several links external to NCBI are also included for the purposes of education, research and health-related matters. These include links to the CDC, the Retroviruses textbook and other informative sites.
A product of the National Library of Medicine for the arrangement of library materials in the field of medicine and related sciences used internationally. The NLM Classification is updated twice a year with the winter edition published in January and the summer edition published in August. Publication of printed editions ceased with the 5th revised edition, 1999. Beginning with the 2006 edition, the NLM Classification is also available in PDF (Portable Document Format) at https://www.nlm.nih.gov/class/terms_cond.html