Bioregistry - Online Mendelian Inheritance in Man

Registry Online Mendelian Inheritance in Man

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

Prefix: omim
Alternative Prefixes: OMIM mim
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

Metaregistry Online Mendelian Inheritance in Man

The metaregistry provides mappings between the Bioregistry and other registries. There are 10 mappings to external registries for omim.

Registry Name	Metaprefix	External Prefix
BioContext	`biocontext`	`OMIM`
BioPortal Prefixes	`bioportal`	`OMIM`
FAIRSharing	`fairsharing`	`FAIRsharing.azq2t6`
Gene Ontology Registry	`go`	`OMIM`
Identifiers.org	`miriam`	`mim`
Name-to-Thing	`n2t`	`mim`
National Center for Biotechnology Information Registry	`ncbi`	`MIM`
Prefix Commons	`prefixcommons`	`omim`
UniProt Cross-ref database	`uniprot`	`MIM`
Wikidata Property	`wikidata`	`P492`

Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE omim:603903 is used to demonstrate the provides available for omim. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name	Metaprefix	URI
Online Mendelian Inheritance in Man	`omim`	https://omim.org/entry/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.

Code	Name	URL
CURATOR_REVIEW	OMIM mirror at John Hopkins	http://mirror.omim.org/entry/603903

Normalize prefixes. This can be any capitalization or punctuation variant of the synonyms listed below.

>>> import bioregistry as br
>>> br.normalize_prefix("OMIM")
'omim'

Get all synonyms:

>>> import bioregistry as br
>>> br.get_synonyms("omim")
{'OMIM', 'mim'}

Get the homepage:

>>> import bioregistry as br
>>> br.get_homepage("omim")
'https://omim.org/'

Get the contact's name:

>>> import bioregistry as br
>>> br.get_contact_name("omim")
'Ada Hamosh'

Get the contact's email:

>>> import bioregistry as br
>>> br.get_contact_email("omim")
'ahamosh@jhmi.edu'

Get the contact's GitHub handle:

>>> import bioregistry as br
>>> br.get_contact_github("omim")
'ahamosh''

Get the contact's ORCiD identifier:

>>> import bioregistry as br
>>> br.get_contact_orcid("omim")
'0000-0002-1780-5230'