Rare Disease Intelligence

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome is a very rare disorder that primarily affects skeletal development, including...

Metabolic disease is a disorder affecting the body’s ability to properly process essential biochemical compounds. It may be congenital, resulting from...

Metabolic disease involving other neurotransmitter deficiency is a condition that affects metabolic processes related to neurotransmitter regulation....

Metabolic myopathy refers to a group of inherited disorders characterized by a deficiency of enzymes involved in key metabolic pathways that support m...

Metabolic myopathy due to lactate transporter defect is a rare metabolic muscle disorder that primarily affects the muscles, leading to cramping and s...

Metabolic syndrome X is a condition characterized by disturbances in metabolic regulation, and it is classified among endocrine and metabolic disorder...

Metachromatic leukodystrophy is a rare lysosomal storage disorder in which sulfatides accumulate within cells, leading to progressive deterioration of...

Metachromatic leukodystrophy due to saposin B deficiency is an inherited disorder that primarily affects the nervous system and peripheral nerves. The...

Metachromatic leukodystrophy, adult form is a condition that primarily affects the nervous system in adults, potentially impacting neurological functi...

Metachromatic leukodystrophy, juvenile form is an inherited condition that primarily affects the white matter of the brain by causing a buildup of sul...

Metachromatic leukodystrophy, late infantile form is a condition that primarily affects the white matter of the nervous system, leading to progressive...

Metachronous osteosarcoma of the bone is a type of malignant bone tumor that develops as a separate lesion after a primary osteosarcoma, often involvi...

Metaphyseal chondrodysplasia, Jansen type is a very rare skeletal dysplasia that primarily affects bone development and growth, leading to short-limbe...