OMIM is a comprehensive compilation of human genes and genetic phenotypes. The full-text, referenced overviews, updated daily, contain information on all known Mendelian disorders and over 12,000 genes with a focus on the relationship between phenotype and genotype.
Link to resource:
http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim