tuberous sclerosis
Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
MONDO:0016756
obsolete inherited nervous system cancer-predisposing syndrome (obsolete MONDO:0016756)
excluded_subClassOf
MONDO:0017891
obsolete inherited renal cancer-predisposing syndrome (obsolete MONDO:0017891)
excluded_subClassOf
MONDO:0024237
inherited neurodegenerative disorder
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0042983
neurocutaneous syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
Bourneville disease
exact
Bourneville syndrome
exact
Bourneville's disease
exact
Bourneville's syndrome
exact
TSC
exact
adenoma sebaceum
related
adenoma sebaceum syndrome
related
epiloia
exact
tuberous sclerosis
exact
tuberous sclerosis complex
exact
tuberous sclerosis syndrome
exact
SPAC18B11.11 SPAC22F3.13 SPAC630.13c