Disease association ontology term - MONDO:0001734 - tuberous sclerosis

Term summary

ID

MONDO:0001734

Name

tuberous sclerosis

Ontology or CV name

Disease association

Definition

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.

Parents

• excluded_subClassOf obsolete inherited nervous system cancer-predisposing syndrome (obsolete MONDO:0016756)
• excluded_subClassOf obsolete inherited renal cancer-predisposing syndrome (obsolete MONDO:0017891)
• excluded_subClassOf inherited neurodegenerative disorder
• is_a autosomal dominant disease
• is_a hereditary neoplastic syndrome
• is_a neurocutaneous syndrome
• is_a hereditary neurological disease

Annotation