Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders.
- Prefix
omim- Alternative Prefixes
- OMIM mim
- Keywords
- bibliography/documents biomedical science disease disease course gene gene expression genetic disorder genetic variation genome/gene genotype health/disease ontology organism-specific databases phenotype
- Version
- 2025_08_04
- License
- https://www.omim.org/help/agreement
- Links
- Homepage OWL Part of omim
- Publications
- https://bioregistry.io/pubmed:30445645
- 2014 OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
- https://bioregistry.io/pubmed:18842627
- 2005 Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
- References
- GitHub Issue https://github.com/biopragmatics/bioregistry/issues/497
Identifier Standards
- Pattern for Local Unique Identifiers
-
Local unique identifiers in Online Mendelian Inheritance in Man should match this
regular expression:
^\d+$ - Example Local Unique Identifier
- 603903 Resolve
- Pattern for CURIES
-
Compact URIs (CURIEs) constructed from Online Mendelian Inheritance in Man should match
this regular expression:
^omim:\d+$ - Example CURIE
- omim:603903
Contacts
- Contact
-
Ada Hamosh
0000-0002-1780-5230
ahamosh
- Group Contact
- Contact Page
- Identifier Space Owner
-
Johns Hopkins University, Baltimore, Maryland
Ontology
A summary of the relations in the Bioregistry schema can be found here.
- In Collection (2)
- FHIR External Terminologies Synapse.org external links
Mappings to External Registries
Mappings from records in Bioregistry to external registries comprises the metaregistry. This resource has 15 mappings to external registries with 9 unique external prefixes.
| Registry Name | Registry Metaprefix | External Prefix | Curate |
|---|---|---|---|
AberOWL
|
aberowl |
OMIM
|
|
| BioContext | biocontext |
OMIM
|
|
BioPortal
|
bioportal |
OMIM
|
|
EDAM
|
edam.data |
1153
|
|
FAIRsharing
|
fairsharing |
FAIRsharing.b084yh
|
|
| GO | go.resource |
OMIM
|
|
| HL7 | hl7 |
6.174
|
|
Integbio
|
integbio |
nbdc00154
|
|
Identifiers.org namespace
|
miriam |
mim
|
|
| N2T | n2t |
mim
|
|
| NCBI | ncbi.resource |
MIM
|
|
| Prefix Commons | prefixcommons |
omim
|
|
UniProt
|
uniprot.resource |
DB-0062
|
|
Wikidata (E)
|
wikidata.entity |
Q7187
|
|
|
Wikidata
|
wikidata.property |
P492
|
Providers
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. Some providers may use a different example, which is displayed in the table below.
A guide for curating additional providers can be found
here.
| Provider Name | Provider Code | URI |
|---|---|---|
| Online Mendelian Inheritance in Man | omim |
https://omim.org/MIM:603903 |
| Bioregistry | bioregistry |
https://bioregistry.io/omim:603903 |
| Identifiers.org namespace | miriam |
https://identifiers.org/mim:603903 |
| Name-to-Thing | n2t |
https://n2t.net/mim:603903 |
Extra Providers
Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.
| Provider Name | Provider Code | URL |
|---|---|---|
| OMIM mirror at John Hopkins | |
http://mirror.omim.org/entry/603903 |
| Bio2RDF | bio2rdf |
http://bio2rdf.org/omim:603903 |
| OMIM | legacy |
https://www.omim.org/entry/603903 |
| MIRIAM Legacy | miriam_legacy |
http://identifiers.org/omim/603903 |
| NCBI | ncbi.omim |
http://www.ncbi.nlm.nih.gov/omim/603903 |
| OMIM PURL (not in use) | purl |
https://purl.org/mim/MIM:603903 |
| OMIM PURL (not in use) | purl2 |
https://omim.org/OMIM:603903 |