schwannomatosis 1

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Summary

Literature (0)

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: neurofibromatosis 3, SMARCB1-related schwannomatosis, SWN1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smarcb1, nf2

MIM:

MIM:162091 - SCHWANNOMATOSIS 1; SWN1

MIM:162091 - SCHWANNOMATOSIS 1; SWN1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): schwannomatosis (is_a)