| Metadata | |
|---|---|
| ID | DOID:0070480 |
| Name | schwannomatosis 1 |
| Definition | A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. https://pubmed.ncbi.nlm.nih.gov/19582488/, https://pubmed.ncbi.nlm.nih.gov/35674741/ |
| Xrefs | |
| Subsets |
NCIthesaurus |
| Synonyms |
neurofibromatosis 3 [BROAD] SMARCB1-related schwannomatosis [EXACT] SWN1 [EXACT] |
| Parent Relationships |
is_a schwannomatosis |