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DOID:0070480 - schwannomatosis 1
Disease Ontology Definition:A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
Synonyms: SMARCB1-related schwannomatosis, SWN1, neurofibromatosis 3,
Xenbase Genes : smarcb1, nf2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
schwannomatosis (is_a)