McKusick's Online Mendelian Inheritance in Man (OMIM(R))

TLDR

McKusick's Online Mendelian Inheritance in Man (OMIM) is a comprehensive knowledgebase of human genes and phenotypes, originally published as a book in 1966 and now expanding its content and organization in response to evolving biological paradigms and biotechnology. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. OMIM currently contains 18,961 full‑text entries describing phenotypes and genes, with 2,239 disease‑causing genes and 3,770 diseases having a molecular basis, and it adds about 70 new entries and updates 700 entries per month.

Abstract

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. Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.