Excerpts from site:

enes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter.

With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites. You can browse through the articles online, and you can also download a printable file (PDF) of each chapter.

From Genes and Disease you can delve into many online related resources with free and full access. For example, you can visit the human genome to see the location of the genes implicated in each disorder. You can also find related gene sequences in different organisms. And for the very latest information, you can search for complete research articles, and look in other books in the NCBI Bookshelf.

Currently over 80 genetic disorders have been summarized, and the content of Genes and Disease is continually growing.