Explore rare diseases in clinical trials
Check which rare diseases are currently being frequently studied.
See also our popular diseases glossary and drug database.
Starting by letter
To open the rare diseases glossary, select a letter from the list below.
Rare diseases starting with “e”
- 0
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is a group of inherited disorders that affect the connective tissue throughout your body, causing symptoms like overly flexible joints, stretchy skin, and easy bruising that can significantly impact daily life.
- 2
Encephalitis autoimmune
Autoimmune encephalitis is a group of conditions where the body’s immune system mistakenly attacks healthy brain cells, causing inflammation that can lead to memory loss, seizures, psychiatric symptoms, and other serious neurological problems.
- 6
Epidermolysis bullosa
Epidermolysis bullosa is a rare inherited condition that causes the skin to become extremely fragile, blistering and tearing from even the slightest touch or friction.
- 3
Erdheim-Chester disease
Erdheim-Chester disease is a rare blood cancer that occurs when the body produces too many immune cells called histiocytes, which then accumulate in organs and tissues throughout the body. This condition can range from causing no symptoms at all to life-threatening complications, depending on which organs are affected.
- 16
Ewing’s sarcoma
Ewing’s sarcoma is a rare and aggressive cancer that most often affects children and teenagers, beginning as abnormal cell growth in bones or nearby soft tissues and requiring prompt treatment with chemotherapy, surgery, or radiation therapy.
- 4
Ewing’s sarcoma metastatic
Metastatic Ewing’s sarcoma is a challenging condition in which cancer that began in bone or soft tissue has spread to distant parts of the body, most commonly the lungs, presenting unique treatment challenges and requiring aggressive therapy approaches.
- 2
Ewing’s sarcoma recurrent
When Ewing’s sarcoma returns after treatment or does not respond to initial therapy, patients face a challenging situation with limited standard treatment options. Understanding what recurrence means and what approaches are available can help patients and families navigate this difficult journey.
- 3
Extranodal marginal zone B-cell lymphoma (MALT type)
Extranodal marginal zone B-cell lymphoma, commonly called MALT lymphoma, is a rare, slow-growing cancer that develops in the moist tissues lining organs and body cavities, most often in the stomach, lungs, or tissues around the eyes.


