OMIM: Online Mendelian Inheritance in Man
This database is a catalog of human genes and genetic genotypes, initiated by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere; developed for the WWW by NCBI. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily. OMIM contains links to PUBMED and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere.