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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

OMIM:613254

Parent Relationships

is_a tuberous sclerosis

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