medgen: alias: description: MedGen is a portal for information about conditions and phenotypes related to Medical Genetics. Terms from multiple 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. forward: https://www.ncbi.nlm.nih.gov/medgen/${ac} institution: National Center for Biotechnology Information (NCBI), NIH, Maryland location: USA more: https://www.ncbi.nlm.nih.gov/medgen/ name: MedGen at NCBI pattern: ^[CN]*\d{4,7}$ prefixed: false primary: false probe: https://www.ncbi.nlm.nih.gov/medgen/760050 provider: ncbi provider_id: MIR:00100794 redirect: https://www.ncbi.nlm.nih.gov/medgen/$id sort_score: 5 state: 99:Up subject: gene; human; phenotype synonym: Global Research Identifier Database test: 760050 type: scheme ncbi/medgen: for: medgen type: synonym