DO_rare_slim NCIthesaurus has material basis in vestibular schwannomatosis GARD:7193 MESH:D016518 NCI:C3274 disease_ontology 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. ACN ICD9CM:237.72 SNOMEDCT_US_2023_03_01:92503002 UMLS_CUI:C0027832 ORDO:637 MIM:101000 DOID:0111252 MIM:101000 BANF ORDO:637 ICD10CM:Q85.02 ICD10CM:Q85.02 SNOMEDCT_US_2025_09_01:700060008 NCI:C3274 GARD:7193 MESH:D016518 ICD9CM:237.72 NF2 NF2-related schwannomatosis SWN3 SWNV UMLS_CUI:C0027832 ORDO:634475 acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3 schwannomatosis autosomal dominant inheritance