Ontology highlight
ABSTRACT:
SUBMITTER: Amberger J
PROVIDER: S-EPMC2686440 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Amberger Joanna J Bocchini Carol A CA Scott Alan F AF Hamosh Ada A
Nucleic acids research 20081008 Database issue
McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18,961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approxima ...[more]