Disease association ontology term - MONDO:0008612 - tuberous sclerosis 1
Term summary
- ID
- MONDO:0008612
- Name
- tuberous sclerosis 1
- Ontology or CV name
- Disease association
- Definition
- 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.
