FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term vestibular schwannomatosis ID (Ontology) DOID:0111252 (Human Disease)
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.
Also Known As "ACN" ; "acoustic neurofibromatosis" ; "BANF" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 vestibular schwannomatosis       1      1
 for disease ribbon | vestibular schwannomatosis       1       --
 model of | vestibular schwannomatosis       1       --
Spanning Tree (Parents/Children)
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autosomal dominant disease__
RASopathy___________________|
                            schwannomatosis
                             |__vestibular schwannomatosis  2 rec.
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Synonyms
  • "ACN" EXACT OMO:0003012
    "acoustic neurofibromatosis" EXACT
    "BANF" EXACT OMO:0003012
    "bilateral acoustic neurinoma" EXACT
    "bilateral acoustic neurofibromatosis" EXACT
    "bilateral acoustic schwannomas" EXACT
    "central neurofibromatosis" EXACT
    "familial acoustic neuromas" EXACT
    "neurofibromatosis 2" EXACT
    "neurofibromatosis type II" EXACT
    "NF2" EXACT OMO:0003012
    "NF2-related schwannomatosis" EXACT
    "schwannomatosis 3" EXACT
    "SWN3" EXACT OMO:0003012
    "SWNV" EXACT OMO:0003012
Secondary IDs
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GARD:7193
ICD10CM:Q85.02
ICD9CM:237.72
MESH:D016518
MIM:101000
NCI:C3274
ORDO:637
SNOMEDCT_US_2023_03_01:92503002
UMLS_CUI:C0027832