You are using an outdated browser. Please upgrade your browser to improve your experience.
tuberous sclerosis 2
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080325
GARD:0005381
NCIT:C75331
OMIM:613254
MONDO:0013199
High level summary of knowledge for a disease, including descriptions and datasource references.