tuberous sclerosis 2
An autosomal dominant syndrome caused by pathogenic variants in the TSC2 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.
MONDO:0019341
obsolete tuberous sclerosis complex (obsolete MONDO:0019341)
excluded_subClassOf
MONDO:0001734
tuberous sclerosis
is_a
TSC2
related
TSC2-related tuberous sclerosis
exact
tuberous sclerosis 2
exact
tuberous sclerosis type 2
exact
tuberous sclerosis, type 2
related
tuberous sclerosis-2
exact
SPAC630.13c SPAC18B11.11