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 “n”
- 1
Nephroblastoma
Nephroblastoma, commonly known as Wilms tumor, is the most common kidney cancer in children, typically appearing before the age of five and often first noticed as a painless lump in the abdomen.
- 8
Nephrotic syndrome
Nephrotic syndrome is a kidney disorder where your body loses too much protein through urine, causing swelling and other health complications that require careful medical management.
- 3
Netherton’s syndrome
Netherton’s syndrome is a rare inherited disorder that affects the skin, hair, and immune system, presenting challenges from birth that can impact every aspect of daily life.
- 2
Niemann-Pick disease
Niemann-Pick disease is a group of rare inherited conditions that affect how the body breaks down and uses fats inside cells. When these fats build up in organs like the brain, liver, spleen, and lungs, cells stop working properly and eventually die, leading to serious health problems that worsen over time.
- 3
Nodal marginal zone B-cell lymphoma
Nodal marginal zone B-cell lymphoma is a rare, slow-growing type of blood cancer that develops when white blood cells called B lymphocytes grow out of control in the lymph nodes.
- 1
Noonan syndrome
Noonan syndrome is a genetic condition that affects many parts of the body, causing distinctive facial features, heart problems, short stature, and other health challenges that vary widely from person to person.


