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With more than 1,200 rare disorders, you can explore rare disease reports that include information on symptoms, causes, treatments, clinical trials, and sources of help such as patient advocacy organizations.
- Acquired Aplastic Anemia
Aplastic anemia may also occur as part of an inherited...
- 47, Xxy (Klinefelter Syndrome)
Klinefelter syndrome is named after Dr. Henry Klinefelter,...
- Abetalipoproteinemia
Abetalipoproteinemia was first reported in the medical...
- Ablepharon-Macrostomia Syndrome
Ablepharon-macrostomia syndrome (AMS) is a rare genetic...
- Achard Thiers Syndrome
Acquired adrenogenital syndrome is a rare endocrine disorder...
- Achalasia
Achalasia is a rare disorder that typically affects adults...
- Acanthocheilonemiasis
Acanthocheilonemiasis is a rare tropical infectious disease...
- Achondroplasia
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- Acquired Aplastic Anemia
Orphanet provides a comprehensive list of all rare diseases registered in the Orphanet database, published annually. In Orphanet, rare diseases are defined using the following approach: Every entity is defined by its clinical homogeneity, regardless of its aetiology or the number of causal genes identified;
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.
Find or understand information about a rare disease. Navigate information throughout the diagnostic journey. Discover resources, disease experts, or clinical studies for a rare disease.
This category has the following 3 subcategories, out of 3 total.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies.
Rare Disease List. There are more than 7,000 rare diseases. We have begun to list these diseases here as well as provide a link to a community dedicated to rare diseases called RareShare. Please keep checking back as this list continues to expand or join the newsletter for updates.
