Rare Disease Intelligence

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...

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

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...

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...

Maternal phenylketonuria (PKU) is a rare metabolic disorder that occurs when mothers have elevated levels of phenylalanine (Phe) during pregnancy. Thi...

Maternal riboflavin deficiency is a condition related to insufficient levels of the vitamin riboflavin in the mother's body, most likely due to dietar...

Maternal uniparental disomy of chromosome 1 is a chromosomal anomaly in which both copies of chromosome 1 are inherited from the mother rather than on...

Maternal uniparental disomy of chromosome 14 is a chromosomal anomaly that results from both copies of chromosome 14 being inherited from the mother,...

Maternal uniparental disomy of chromosome 16 is a condition in which both copies of chromosome 16 are inherited from the mother, leading to an imbalan...

Maternal uniparental disomy of chromosome 2 is a genetic phenomenon in which both copies of chromosome 2 are inherited from the mother. In most cases,...

Maternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother, l...

Maternal uniparental disomy of chromosome 21 is a rare chromosomal phenomenon in which both copies of chromosome 21 are inherited from the mother rath...

Maternal uniparental disomy of chromosome 22 is a condition in which both copies of chromosome 22 are inherited from the mother, leading to an abnorma...