http://rarediseases.info.nih.gov/asp/diseases/diseases.asp
Office of Rare Diseases, National Institutes of Health
Browse this site for a definition of terms related to genetic and rare disorders. These terms and their definitions have been developed from glossaries prepared by U.S. Congressional Office of Technology Assessment, National Institutes of Health's Understanding Gene Therapy On-line Glossary, and Genetics Education Center, University of Kansas Medical Center.