MedGen
NCBI's portal to information about conditions, phenotypes, and findings in humans related to medical genetics. Aggregates and organizes data from multiple authoritative sources including UMLS, OMIM, HPO, Mondo, Orphanet, GeneReviews, PharmGKB, and community submissions to GTR and ClinVar. Each concept is assigned a distinct Concept Unique Identifier (CUI) and integrated with related information from clinical resources, genetic testing registries, medical literature, and molecular resources.
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