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Echinobase
Summary Literature (0)
DOID:3204 - schwannomatosis

Disease Ontology Definition:A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.

Synonyms: Schwannomatosis, neurilemmomatosis, neurinomatosis, SWN

Echinobase Genes : smarcb1, lztr1


MIM:
MIM:162091 - schwannomatosis 1; swnts1
MIM:615670 - schwannomatosis 2; swnts2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), neurilemmoma (is_a), RASopathy (is_a)