| Metadata | |
|---|---|
| ID | DOID:0080325 |
| Name | tuberous sclerosis 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/28667702, https://www.omim.org/entry/613254 |
| Xrefs | |
| Parent Relationships |
is_a tuberous sclerosis |