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 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 (OMIMĀ®), 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