Term Name: | tuberous sclerosis 2 |
---|---|
Synonyms: | |
Definition: | A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. |
Ontology: | Human Disease [DOID:0080325] ( DOID:0080325 ) |