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A comprehensive list of over 6,000 known genetic disorders in humans, with their chromosome or gene mutation, type, and prevalence. Includes common and rare disorders, such as Down syndrome, cystic fibrosis, sickle cell disease, and more.
There are over 10,000 rare diseases that together affect more than 30 million Americans. NORD is dedicated to the identification, treatment, and cure of these diseases through comprehensive education, advocacy, research, and service programs.
Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH.
Several rare genetic diseases affect a few people worldwide, and most present unique challenges for diagnosis and treatment. What are these rare genetic medical conditions? Thankfully, you will learn more about them here in this post.
GARD provides free access to reliable and easy-to-understand information about over 10,000 rare diseases. You can search by disease, contact GARD specialists, find resources, and connect with patient organizations.
A-Z of genetic and rare conditions. You can find more information here about a range of conditions that are genetic, rare or both. There are over 7,000 rare conditions, and new conditions are regularly identified through scientific progress. 8 out of 10 rare conditions are genetic in origin.
Where can I find a rare disease list? The National Organization for Rare Disorders (NORD) provides a rare disease database on its website. You can read about over 1,200 rare disorders, listed alphabetically.
Learn about genetic disorders, which occur when a mutation affects your genes or chromosomes. Find out how they are diagnosed, managed and prevented, and what are the common and rare types.
A rare disease is a disease or condition that impacts fewer than 200,000 people in the U.S. There are more than 10,000 known rare diseases that affect about 1 in 10 people (or 30 million people) in the U.S., according to the Orphan Drug Act .
We provide information about rare diseases, patient organizations and other resources. We also promote awareness of rare diseases among physicians and other medical professionals.