Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders.
- Prefix
omim- Alternative Prefixes
- mim OMIM
- Keywords
- biomedical science disease disease process modeling gene gene expression genetic disorder genotype ontology phenotype
- License
- https://www.omim.org/help/agreement
- Links
- Homepage
- Contact
- 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:
^\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
- Publications
- References
- GitHub Issue https://github.com/biopragmatics/bioregistry/issues/497
Ontology
A summary of the relations in the Bioregistry schema can be found here.
-
Has Parts (
bfo:0000051) - omim.ps
- 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 |
OMIM
|
|
| BioContext | biocontext |
OMIM
|
|
BioPortal
|
bioportal |
OMIM
|
|
EDAM
|
edam |
1153
|
|
FAIRSharing
|
fairsharing |
FAIRsharing.b084yh
|
|
GO
|
go |
OMIM
|
|
HL7
|
hl7 |
2.16.840.1.113883.6.174
|
|
Integbio
|
integbio |
nbdc00154
|
|
Identifiers.org
|
miriam |
mim
|
|
N2T
|
n2t |
mim
|
|
NCBI
|
ncbi |
MIM
|
|
Prefix Commons
|
prefixcommons |
omim
|
|
UniProt
|
uniprot |
DB-0062
|
|
Wikidata
|
wikidata |
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. A guide for curating additional providers can be found
here.
| Name | Metaprefix | URI |
|---|---|---|
| Online Mendelian Inheritance in Man | omim |
https://omim.org/MIM:603903 |
| Bioregistry | bioregistry |
https://bioregistry.io/omim:603903 |
| Identifiers.org | 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.
| Code | Name | URL |
|---|---|---|
CURATOR_REVIEW |
OMIM mirror at John Hopkins | http://mirror.omim.org/entry/603903 |
bio2rdf |
Bio2RDF | http://bio2rdf.org/omim:603903 |
legacy |
OMIM | https://www.omim.org/entry/603903 |
miriam_legacy |
MIRIAM Legacy | http://identifiers.org/omim/603903 |
ncbi.omim |
NCBI | http://www.ncbi.nlm.nih.gov/omim/603903 |
purl |
OMIM PURL (not in use) | https://purl.org/mim/MIM:603903 |
purl2 |
OMIM PURL (not in use) | https://omim.org/OMIM:603903 |