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 “m”
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Malignant fibrous histiocytoma
Malignant fibrous histiocytoma is a rare and aggressive type of cancer that affects soft tissues or bones, most commonly appearing as a painless mass in the arms or legs of older adults, though it can occur in children and throughout the body.
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Mantle cell lymphoma
Mantle cell lymphoma is a rare type of blood cancer that develops when certain white blood cells grow out of control. While it cannot be cured, treatment can help manage symptoms and extend periods when the disease is not active.
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Mantle cell lymphoma refractory
Mantle cell lymphoma can stop responding to treatment or return after remission, presenting one of the most difficult challenges in cancer care today.
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Mantle cell lymphoma stage II
Mantle cell lymphoma stage II affects two or more groups of lymph nodes on the same side of the diaphragm. This rare blood cancer develops when abnormal B cells grow out of control in the lymphatic system, typically requiring treatment with a combination of therapies.
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Mantle cell lymphoma stage III
Mantle cell lymphoma stage III is a rare and aggressive form of blood cancer that affects lymph nodes on both sides of the diaphragm. While the diagnosis can be challenging, understanding this condition and the available treatment options can help patients and their families navigate the journey ahead.
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Mantle cell lymphoma stage IV
Mantle cell lymphoma stage IV represents the most advanced form of this rare blood cancer, where the disease has spread beyond the lymph nodes to other parts of the body. Understanding this diagnosis, its implications, and available treatment options can help patients and their families navigate this challenging journey.
- 0
Marfan’s syndrome
Marfan syndrome is a genetic condition that weakens the body’s connective tissue, affecting the heart, blood vessels, eyes, bones, and other organs. With proper care and monitoring, people with this condition can live long and productive lives.
- 14
Marginal zone lymphoma
Marginal zone lymphoma is a slow-growing type of cancer that affects the body’s immune system, typically diagnosed in people over age 60, and can often be treated successfully with various approaches depending on where the disease develops.
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Marginal zone lymphoma refractory
When marginal zone lymphoma returns after treatment or stops responding to therapy, patients face a challenging situation that requires specialized care and new treatment approaches.
- 0
Mast cell activation syndrome
Mast cell activation syndrome (MCAS) causes your immune system to send repeated false alarms throughout your body, triggering severe episodes of swelling, breathing problems, skin reactions, and digestive symptoms without a clear reason.
- 1
Mastocytosis
Mastocytosis is a rare disease that happens when the body produces too many mast cells, which are white blood cells that normally protect against bacteria and allergens. When these cells become abnormal and multiply uncontrollably, they release chemicals that cause unusually intense or long-lasting allergic reactions throughout the body.
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Medulloblastoma
Medulloblastoma is a cancerous brain tumor that begins in the cerebellum, the part of the brain responsible for balance and coordination. Though it can occur at any age, it is the most common malignant brain tumor in children, with most cases diagnosed between ages 5 and 9.
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Medulloblastoma recurrent
When medulloblastoma returns after treatment, families face one of the most difficult challenges in pediatric cancer. While initial diagnosis carries an 80% survival rate, recurrence drops survival odds to just 5%, with no established treatment plan available.
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MELAS syndrome
MELAS syndrome is a rare inherited condition that primarily affects the nervous system and muscles, usually appearing in childhood and causing stroke-like episodes, seizures, and a buildup of lactic acid in the body.
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Metachromatic leukodystrophy
Metachromatic leukodystrophy is a rare inherited disorder that progressively destroys the protective covering around nerve cells in the brain and nervous system. This buildup of fatty substances leads to a gradual loss of physical abilities, mental function, and eventually results in severe disability.
- 0
Methylmalonic acidaemia
Methylmalonic acidaemia is a rare inherited disorder where the body cannot properly break down certain proteins and fats, leading to a dangerous buildup of toxic substances that can affect the brain, kidneys, and other organs throughout life.
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Mitochondrial myopathy
Mitochondrial myopathy affects the tiny energy factories inside our cells, leading to muscle weakness and fatigue that can impact daily life in profound ways.
- 0
Mucopolysaccharidosis
Mucopolysaccharidosis is a group of rare inherited diseases that cause progressive cellular damage throughout the body, affecting appearance, physical abilities, and organ function. These conditions result from missing or malfunctioning enzymes that normally break down complex sugar molecules, leading to their harmful accumulation in cells and tissues.
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Mucopolysaccharidosis I
Mucopolysaccharidosis type I is a rare inherited condition that affects many parts of the body, causing progressive damage to organs, bones, and tissues due to the buildup of complex sugar molecules inside cells.
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Mucopolysaccharidosis II
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare genetic disorder that occurs almost exclusively in boys. This progressive condition affects many parts of the body, from physical appearance to organ function, and its severity varies greatly among affected individuals.
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Mucopolysaccharidosis III
Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is a rare inherited disease that primarily affects the brain and spinal cord, causing progressive damage to the nervous system in early childhood.
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Mucous membrane pemphigoid
Mucous membrane pemphigoid is a rare autoimmune condition that causes painful blisters primarily in the mouth and eyes, and can lead to serious complications including vision loss if not treated early.
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Myelodysplastic syndrome
Myelodysplastic syndrome is a group of disorders that disrupts normal blood cell production in the bone marrow, leaving the body without enough healthy blood cells to function properly. While some people live with the condition for years without treatment, others may see it progress to a more aggressive form of cancer.
- 0
Myelodysplastic syndrome with excess blasts
Myelodysplastic syndrome with excess blasts is a high-risk form of a blood disorder where the bone marrow produces too many immature blood cells and not enough healthy ones, often leading to serious complications.
- 1
Myxofibrosarcoma
Myxofibrosarcoma is a type of cancer that starts in the connective tissue, most commonly appearing as a slow-growing lump in the arms or legs. This cancer primarily affects older adults and has a tendency to return even after treatment, making careful monitoring essential for those diagnosed with this condition.


