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schwannomatosis 1
Summary
- Synonym
-
- SMARCB1-related schwannomatosis
- SWN1
- Definition
- A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
- Super Class
- schwannomatosis
External Links
- Disease Ontology
- DOID:0070480
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- OMIM
