appears_in: []
contact:
  email: ahamosh@jhmi.edu
  github: ahamosh
  name: Ada Hamosh
  orcid: 0000-0002-1780-5230
depends_on: []
deprecated: false
description: Online Mendelian Inheritance in Man is a catalog of human genes and genetic
  disorders.
example: '603903'
homepage: https://omim.org/
keywords:
- biomedical science
- disease
- disease process modeling
- gene
- gene expression
- genetic disorder
- genotype
- ontology
- phenotype
license: https://www.omim.org/help/agreement
mappings:
  aberowl: OMIM
  biocontext: OMIM
  bioportal: OMIM
  edam: '1153'
  fairsharing: FAIRsharing.b084yh
  go: OMIM
  hl7: 2.16.840.1.113883.6.174
  integbio: nbdc00154
  miriam: mim
  n2t: mim
  ncbi: MIM
  prefixcommons: omim
  uniprot: DB-0062
  wikidata: P492
name: Online Mendelian Inheritance in Man
namespace_in_lui: false
pattern: ^\d+$
preferred_prefix: omim
prefix: omim
providers:
- code: CURATOR_REVIEW
  description: OMIM mirror at John Hopkins
  homepage: http://mirror.omim.org/
  name: OMIM mirror at John Hopkins
  uri_format: http://mirror.omim.org/entry/$1
- code: bio2rdf
  description: Bio2RDF is an open-source project that uses Semantic Web technologies
    to build and provide the largest network of Linked Data for the Life Sciences.
    Bio2RDF defines a set of simple conventions to create RDF(S) compatible Linked
    Data from a diverse set of heterogeneously formatted sources obtained from multiple
    data providers.
  homepage: https://bio2rdf.org
  name: Bio2RDF
  uri_format: http://bio2rdf.org/omim:$1
- code: legacy
  description: This is the actual endpoint for OMIM entries
  homepage: https://www.omim.org
  name: OMIM
  uri_format: https://www.omim.org/entry/$1
- code: miriam_legacy
  description: Legacy URLs for identifiers.org
  homepage: http://identifiers.org
  name: MIRIAM Legacy
  uri_format: http://identifiers.org/omim/$1
- code: ncbi.omim
  description: An NCBI endpoint for OMIM entries
  homepage: http://www.ncbi.nlm.nih.gov/omim
  name: NCBI
  uri_format: http://www.ncbi.nlm.nih.gov/omim/$1
- code: purl
  description: An extra purl that was registred, but probably won't be used.
  homepage: https://www.omim.org
  name: OMIM PURL (not in use)
  uri_format: https://purl.org/mim/MIM:$1
- code: purl2
  description: An extra purl that was registred, but probably won't be used.
  homepage: https://www.omim.org
  name: OMIM PURL (not in use)
  uri_format: https://omim.org/OMIM:$1
publications:
- doi: 10.1093/nar/gku1205
  pmc: PMC4383985
  pubmed: '25428349'
  title: 'OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog
    of human genes and genetic disorders'
  year: 2014
- doi: 10.1093/nar/gki033
  pmc: PMC539987
  pubmed: '15608251'
  title: Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes
    and genetic disorders
  year: 2005
references:
- https://github.com/biopragmatics/bioregistry/issues/497
synonyms:
- OMIM
- mim
uri_format: https://omim.org/MIM:$1
