|National Center for Biotechnology Information (NCBI)|
|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.
|Phenotype, Ontology/Terminology/Nomenclature, Bibliography/Documents|