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tuberous sclerosis 2
Summary
- 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.
- Super Class
- tuberous sclerosis
External Links
- Disease Ontology
- DOID:0080325
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN | |
| P98161 | Polycystin-1 |
