appears_in: []
contact:
  email: megan.kane@nih.gov
  github: kanems
  name: Megan S. Kane
  orcid: 0000-0001-5493-2602
contributor_extras:
- email: nicolas.matentzoglu@gmail.com
  github: matentzn
  name: Nicolas Matentzoglu
  orcid: 0000-0002-7356-1779
depends_on: []
deprecated: false
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.
example: '760050'
example_decoys:
- N1849341
- C1849341
example_extras:
- '610'
- CN970821
homepage: https://www.ncbi.nlm.nih.gov/medgen/
keywords: []
mappings:
  biocontext: MedGen
  biolink: medgen
  integbio: nbdc02560
  miriam: medgen
  n2t: medgen
  ncbi: MedGen
  togoid: Medgen
name: Human Medical Genetics
namespace_in_lui: false
pattern: ^(CN)?\d{2,7}$
preferred_prefix: medgen
prefix: medgen
providers: []
publications: []
references:
- https://github.com/biopragmatics/bioregistry/pull/1567
synonyms:
- medgen.uid
uri_format: https://www.ncbi.nlm.nih.gov/medgen/$1
