tuberous sclerosis 1
An autosomal dominant syndrome caused by pathogenic variants in the TSC1 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
TSC1
related
TSC1 tuberous sclerosis
exact
TSC1-related tuberous sclerosis
exact
tuberous sclerosis 1
exact
tuberous sclerosis caused by mutation in TSC1
exact
tuberous sclerosis type 1
exact
tuberous sclerosis, type 1
related
tuberous sclerosis-1
exact
SPAC22F3.13