OMIM – Online Mendelian Inheritance in Man [via Johns Hopkins Univeristy]
“OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.
This database was initiated in the early 1960s by Dr. Victor A. McKusick as a [PRINT] catalog of mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM). Twelve book editions of MIM [complete title: Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes] were published between 1966 and 1998. The online version, OMIM, was created in 1985 by a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins. It was made generally available on the internet starting in 1987. In 1995, OMIM was developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.
OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.”