Rare Disease Intelligence

Mandibulofacial dysostosis is a hereditary disorder affecting the development of facial structures, manifesting in two forms. The complete form, known...

Mandibulofacial dysostosis with alopecia is a very rare condition characterized by underdeveloped cheek and jaw bones, typically accompanied by abnorm...

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a condition characterized by distinctive craniofacial features, abnormalities of the...

Manganese poisoning is a condition caused by chronic inhalation of manganese particles, most often encountered in occupational settings such as mining...

Mansonelliasis is a parasitic infection caused by nematodes of the genus Mansonella. It is primarily characterized by symptoms such as itching, headac...

Mantle cell lymphoma is a form of malignant non-Hodgkin lymphoma that primarily affects B lymphocytes in the lymph nodes, specifically within the mant...

Maple bark strippers' lung is a form of hypersensitivity pneumonitis that develops from inhaling fungal spores of Cryptostroma corticale. This conditi...

Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes, leading to a defici...

Maple syrup urine disease type 1A is a metabolic condition caused by mutations in the BCKDHA gene that disrupt the normal breakdown of certain amino a...

Maple syrup urine disease, mild variant is a metabolic condition that affects the body’s ability to process certain amino acids, particularly the bran...

Marantic endocarditis is a condition characterized by the formation of non-infectious vegetations on previously healthy heart valves. It is most frequ...

Marginal zone lymphoma is an indolent mature B-cell lymphoma that arises from the marginal zone of lymphoid tissues. It includes extranodal, nodal, an...