Rare diseases
Diseases are classified as rare or orphan if they affect fewer than 200,000 individuals in the United States. Almost 7,000 rare diseases have been described to date.
The Jackson Laboratory offers the world's largest collection of spontaneous, targeted, and transgenic mutant mouse strains, hundreds of which model rare diseases.
Relevant links to human rare disease resources
- Rare and Orphan Disease Center (RODC) at The Jackson Laboratory
- NIH Office of Rare Diseases Research (ORDR)
- The National Organization for Rare Disorders database (NORD)
- Online Mendelian Inheritance in Man database (OMIM)
- Orphanet database (hosted by INSERM with links to OMIM)
