Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Abstract

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, 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 and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Figure 1

Growth of the database in terms of number of entries in each edition of MIM and in OMIM as of September 13, 2004.

Figure 2

(A) Entry for cystic fibrosis and (B) CFTR showing links to Entrez Gene, Nomenclature, RefSeq, GenBank, Protein and UniGene databases, as well as links to the CFTR mutation database (CFMDB), the Coriell Cell Repository (CCR) and the Human Gene Mutation Database (HGMD).

Figure 2

(A) Entry for cystic fibrosis and (B) CFTR showing links to Entrez Gene, Nomenclature, RefSeq, GenBank, Protein and UniGene databases, as well as links to the CFTR mutation database (CFMDB), the Coriell Cell Repository (CCR) and the Human Gene Mutation Database (HGMD).