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Disease Ontology Browser
schwannomatosis 1 (DOID:0070480)
Alliance: disease page
Synonyms: neurofibromatosis 3; SMARCB1-related schwannomatosis; SWN1
Alt IDs: OMIM:162091, NCI:C186703, UMLS_CUI:C5670707
Definition: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory