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Rare Diseases List and Definitions

Synopsis: Information includes a list of rare diseases and the definition of the term orphan disease, which is sometimes used as a synonym for rare disease.1

Author: Disabled World Contact: www.disabled-world.com

Published: 2020-06-09

Key Points:

The European Union (EU) defines rare diseases as conditions that affect less than 1 in 2,000 people, but many are much rarer.

In the United States the Congress in the Orphan Drug Act (ODA) of 1983 defines a rare disease as one that affects fewer than 200,000 people.

Main Digest

Defining Rare Diseases

The term orphan disease is sometimes used as a synonym for rare disease. Most genetic disorders are rare diseases, but not all rare diseases are caused by genetic factors. There are approximately 7,000 rare diseases (RD). Rare diseases include, some very rare infectious diseases, rare forms of autoimmune disorders, and rare cancers. Global Genes estimates over 300 million people worldwide are living with a rare disease. On average 1 in 17 people will be affected by a rare disease at some point during their lives.

There is no single, widely accepted definition for rare diseases. Some definitions are based on the number of people living with a disease, and other definitions include factors, such as existence of adequate treatment(s) or the severity of the disease. Rare disease definitions used in medical literature and by national health plans are divided, with definitions ranging from 1 in 1,000 people to 1 in 200,000 people.

The symbol for rare disease awareness is a zebra-striped ribbon.
The symbol for rare disease awareness is a zebra-striped ribbon.

Rare Disease Awareness Day is held globally on February 29 - February 28 on non-leap years. The awareness day was originally started by the European Organization for Rare Diseases and is now recognized globally. The rare disease awareness ribbon is a zebra-striped ribbon.

Incomplete List of Rare Diseases

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Cite Page: Journal: Disabled World. Language: English (U.S.). Author: Disabled World. Electronic Publication Date: 2020-06-09. Title: Rare Diseases List and Definitions, Source: <a href=https://www.disabled-world.com/definitions/lists/rare-disease.php>Rare Diseases List and Definitions</a>. Retrieved 2021-03-04, from https://www.disabled-world.com/definitions/lists/rare-disease.php - Reference: DW#523-13851.