Term Name: schwannomatosis 1
Synonyms: neurofibromatosis 3, SMARCB1-related schwannomatosis, SWN1
Definition: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
Ontology: Human Disease [DOID:0070480]   ( DOID:0070480 )

Relationships
is a type of: schwannomatosis