OBO ID: DOID:0111252 |
Term Name: | vestibular schwannomatosis | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0111252 ) |
OTHER vestibular schwannomatosis PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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