Mondo Description Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
Uniprot Description An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Mondo Term and Equivalent IDs
MONDO:0013199: tuberous sclerosis 2