Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders.

Alternative Prefixes
OMIM mim
biomedical science disease disease process modeling gene gene expression genetic disorder genotype ontology phenotype
Ada Hamosh   0000-0002-1780-5230   ahamosh
Pattern for Local Unique Identifiers

Local identifiers in Online Mendelian Inheritance in Man should match this regular expression:

Example Local Unique Identifier
603903   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from Online Mendelian Inheritance in Man should match this regular expression:

Example CURIE
GitHub Issue

A summary of the relations in the Bioregistry schema can be found here.

Has Parts (bfo:0000051 )
In Collection
FHIR External Terminologies
Metaregistry Online Mendelian Inheritance in Man

The metaregistry provides mappings between the Bioregistry and other registries. There are 14 mappings to external registries for this resource with 8 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
AberOWL AberOWL logo aberowl OMIM
BioContext biocontext OMIM
BioPortal BioPortal Prefixes logo bioportal OMIM
EDAM EDAM Ontology logo edam 1153
FAIRSharing FAIRSharing logo fairsharing FAIRsharing.b084yh
GO Gene Ontology Registry logo go OMIM
HL7 HL7 External Code Systems logo hl7 2.16.840.1.113883.6.174
Integbio Integbio logo integbio nbdc00154 logo miriam mim
N2T Name-to-Thing logo n2t mim
NCBI National Center for Biotechnology Information Registry logo ncbi MIM
Prefix Commons Prefix Commons logo prefixcommons omim
UniProt UniProt Cross-ref database logo uniprot DB-0062
Wikidata Wikidata Property logo wikidata P492

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier 603903 is used to demonstrate the providers available for Online Mendelian Inheritance in Man. A guide for curating additional providers can be found here.

Name Metaprefix URI
Online Mendelian Inheritance in Man omim
Bioregistry bioregistry miriam
Name-to-Thing n2t
Extra Providers

Additional providers curated in the Bioregistry are listed here. These are typically inherited from or Prefix Commons, and need extra curation.

Code Name URL
CURATOR_REVIEW OMIM mirror at John Hopkins
bio2rdf Bio2RDF
legacy OMIM
miriam_legacy MIRIAM Legacy
ncbi.omim NCBI
purl OMIM PURL (not in use)
purl2 OMIM PURL (not in use)