Search Ontology:
Human Disease
tuberous sclerosis 2
- Term ID
- DOID:0080325
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0080325 )
- is a type of
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