Bio2RDF::Omim

OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype.

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Data and Resources

SPARQL endpointapi/sparql
SPARQL endpoint

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Example resource (RDF)example/rdf+xml
Example resource (RDF)

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Download page (n-quads, gz compressed)
Download

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Dataset description (HTML)HTML
Dataset description (HTML)

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Dataset description (RDF)meta/void
Dataset description (RDF)

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OWL Schemameta/rdf-schema
OWL Schema

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Mappings (SIO)mapping/owl
Mappings (SIO)

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Semantic Web Sitemapmeta/sitemap
Semantic Web Sitemap

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Download (n-quads, gzipped)application/x-nquads
Download omim.nq.gz (n-quads, gzipped)

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Additional Info

Field	Value
Source	http://omim.bio2rdf.org/
Author	Bio2RDF
Maintainer
Version	2014-07-24
Last Updated	July 30, 2016, 07:48 (UTC)
Created	August 30, 2010, 10:36 (UTC)
links:bio2rdf-dbsnp	8501
links:bio2rdf-do	902
links:bio2rdf-eom	45
links:bio2rdf-gi	576766
links:bio2rdf-hp	4835
links:bio2rdf-hprd	12915
links:bio2rdf-icd10	1022
links:bio2rdf-icd9	820
links:bio2rdf-img	45
links:bio2rdf-mgi	12869
links:bio2rdf-ncbigene	15738
links:bio2rdf-omim	95397
links:bio2rdf-ordr	2954
links:bio2rdf-orphanet	7026
links:bio2rdf-pubmed	121566
links:bio2rdf-snomedct	4833
links:bio2rdf-umls	29602
namespace	http://bio2rdf.org/omim:
triples	7980621