OMIM : Online Mendelian Inheritance in Man

Welcome to OMIM, Online Mendelian Inheritance in Man. This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez sys... more

Also known as:

  • mim,
  • Mendelian Inheritance in Man.,
  • Online Mendelian Inheritance in Man database,
  • Mendelian Inheritance in Man

Public

Date modified:

  • Mar 16, 2009

Number of triples:

  • 1,046,759

Number of topics:

  • 20,123

SPARQL point:

  • http://omim.bio2rdf.org/sparql

SPARQL port number:

  • 8,925

Reserved namespace:

  • omim

Description:

  • The OMIM(TM) (Online Mendelian Inheritance in Man) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information.
  • Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (a href=http:www.ncbi.nlm.nih.govomimhttp:www.ncbi.nlm.nih.govomima) is now distributed electronically by the National Center for Biotechnology Information (NCBI), where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype andor gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, approved gene nomenclature, and the highly detailed mapviewer, as well as patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Provider homepage:

  • http://www.genome.ad.jp/dbget-bin/www_bfind_info?omim

Identifier example:

  • OMIM:190198
  • 191170

URL pattern:

  • http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=%s
  • http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?%s

Triple number:

  • 765,384

Namespace number:

  • 18
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