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Unified Medical Language System® (UMLS®)

2012AB Online Mendelian Inheritance in Man Source Information

Web site:
http://www.ncbi.nlm.nih.gov/omim/

Authority
Online Mendelian Inheritance in Man® (OMIM®) was developed and is maintained by the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine. It is made available online by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).

Purpose
OMIM was developed as a catalog of mendelian traits and disorders, with a focus on the relationship between phenotype and genotype.

Description
OMIM is a comprehensive guide to human genes and genetic phenotypes with full-text, referenced overviews for all mendelian disorders and over 12,000 genes. OMIM also provides relevant links to PubMED and other related NCBI resources.

Audience
OMIM is primarily intended for use by:

  • physicians,
  • genetics researchers,
  • advanced students in science and medicine, and
  • other genetic disorders professionals.

Update Frequency
OMIM is updated daily.

Metathesaurus Update Frequency
OMIM is updated annually in the Metathesaurus, as resources permit.

Sites Consulted

  1. OMIM Home [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2009 Oct 16].  Available from: http://www.ncbi.nlm.nih.gov/omim/.