Martsolf syndrome 1 is a rare condition that is defined by a combination of intellectual difficulties, congenital cataracts, and low hormone levels du...

Martsolf syndrome 2, also known as MARTS2, is a rare condition with limited detailed information available. While a formal definition is not provided...

MASA syndrome is a historical term that described a collection of signs now seen as part of the X-linked L1 clinical spectrum (also known as L1 syndro...

MASS syndrome is a genetic disorder that affects the connective tissue—the material that provides structure and strength to the body’s cells. It is ca...

Mast cell activation syndrome (also known as MACS, disorder of mast cell activation, or mast cell activation disease) is a clinically defined conditio...

Mast cell leukemia is a malignant form of systemic mastocytosis characterized by the presence of circulating mast cells, which indicates an aggressive...

Mast cell neoplasm is a group of disorders where there is an abnormal growth and accumulation of mast cells in one or more organ systems. Mast cells a...

Mast cell sarcoma is a rare malignant tumor characterized by the localized but destructive growth of highly atypical, immature mast cells. It represen...

Mastocytoma is a localized tumor composed of sheets of mast cells and can involve the skin (cutaneous mastocytoma) or other tissues, with extracutaneo...

Mastocytosis is a clonal myeloproliferative neoplasm characterized by the abnormal proliferation and accumulation of mast cells in one or several orga...

Mast syndrome, also known as autosomal recessive spastic paraplegia type 21, is a complex neurological condition that primarily affects adolescents an...

Maternal 14q32.2 hypermethylation syndrome is a very rare multisystem condition that affects fewer than 1 in 1,000,000 people. It is characterized by...

Maternal 14q32.2 microdeletion syndrome is a very rare condition that appears to affect multiple organ systems, including neurological development and...

Maternal hyperthermia induced birth defects is a rare embryofetopathy that occurs when elevated maternal body temperature during pregnancy disrupts no...

Maternally-inherited cardiomyopathy and hearing loss is a mitochondrial disorder characterized by a combination of progressive sensorineural hearing l...

Maternally-inherited diabetes and deafness is a mitochondrial disorder most characterized by the coexistence of diabetes and sensorineural hearing los...

Maternally-inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized by symptoms such as encephalopathy, lactic acidosis, seizures, c...

Maternally-inherited mitochondrial dystonia is a rare neurological disorder that affects movement, specifically causing progressive dystonia in pediat...