Term Name: tuberous sclerosis 1
Synonyms:
Definition: A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0080324]   ( DOID:0080324 )

Relationships
is a type of: tuberous sclerosis