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DOID:0111252 - vestibular schwannomatosis
Disease Ontology Definition:A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
Synonyms: ACN, acoustic neurofibromatosis, BANF, bilateral acoustic neurinoma, bilateral acoustic neurofibromatosis, bilateral acoustic schwannomas, central neurofibromatosis, familial acoustic neuromas, neurofibromatosis 2, neurofibromatosis type II, NF2, NF2-related schwannomatosis, schwannomatosis 3, SWN3, SWNV
Xenbase Genes
:
nf2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neurofibromatosis (is_a),
schwannomatosis (is_a)