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Disease Ontology Browser
vestibular schwannomatosis (DOID:0111252)
Alliance: disease page
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
Alt IDs: OMIM:101000, ICD10CM:Q85.02, MESH:D016518, NCI:C3274, ORDO:637, UMLS_CUI:C0027832
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.

Disease References using Mouse Models (1)
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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12/17/2024
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