OBO ID: DOID:0111252
Term Name: vestibular schwannomatosis Search Ontology:
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
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. https://pubmed.ncbi.nlm.nih.gov/35674741/
References:
  • GARD:7193
  • ICD10CM:Q85.02
  • ICD9CM:237.72
  • MESH:D016518
  • NCI:C3274
  • OMIM:101000
  • ORDO:637
  • SNOMEDCT_US_2023_03_01:92503002
  • UMLS_CUI:C0027832
Ontology: Human Disease   ( DOID:0111252 )
OTHER vestibular schwannomatosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NF2 Schwannomatosis, vestibular 101000
Schwannomatosis, somatic 101000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None