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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.
- Achalasia
Achalasia is a rare disorder that typically affects adults...
- Aarskog Syndrome
Noonan syndrome with multiple lentigines (NSML) is a rare...
- Acoustic Neuroma
Headaches may also occur in the absence of hydrocephalus and...
- Abetalipoproteinemia
Abetalipoproteinemia is a rare inherited disorder affecting...
- Achondrogenesis
Disease Overview. Summary. Achondrogenesis is a group of...
- Aceruloplasminemia
Aceruloplasminemia is a rare genetic disorder characterized...
- Acanthocheilonemiasis
Acanthocheilonemiasis is a rare tropical infectious disease...
- Ablepharon-Macrostomia Syndrome
AMS has been grouped within the category of diseases called...
- Achalasia
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. Orphan drugs are medications targeting orphan diseases.
Learn how a disease is defined as rare, why rare disease research is important, what causes rare diseases, and how you can help.
A rare disease is a disease that affects a small percentage of the population but there is no single accepted definition. The European Union and United Kingdom define a disease as rare if it affects fewer than 1 in 2,000 people, but there is no universal definition.
Rare diseases are distributed across different chapters following a primarily clinical approach. The main code is selected according to the most severe system involvement or the specialist most likely to be relied on to manage the disease.
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited.
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 .
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