Term Name: | schwannomatosis 1 |
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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 ) |