| 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 ) |