Metadata | |
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ID | DOID:0080324 |
Name | tuberous sclerosis 1 |
Definition | A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. https://www.omim.org/entry/191100 |
Xrefs | |
Parent Relationships |
is_a tuberous sclerosis |