|
gptkbp:instanceOf
|
genetic disorder
rare disease
|
|
gptkbp:alsoKnownAs
|
gptkb:NF2
|
|
gptkbp:complication
|
deafness
vision loss
facial nerve palsy
|
|
gptkbp:diagnosedBy
|
MRI
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Wishart
1822
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:hasPatientOrganization
|
gptkb:Children's_Tumor_Foundation
gptkb:Neurofibromatosis_Network
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
neurofibromatosis type 2
|
|
gptkbp:ICD-10_code
|
Q85.0
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_22q12.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NF2_gene
|
|
gptkbp:namedAfter
|
neurofibromatosis
|
|
gptkbp:OMIM
|
101000
|
|
gptkbp:onset
|
adolescence or early adulthood
|
|
gptkbp:prevalence
|
about 1 in 25,000 to 1 in 40,000 people
|
|
gptkbp:proteinAffected
|
merlin
|
|
gptkbp:relatedTo
|
gptkb:neurofibromatosis_type_1
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:cataracts
balance problems
hearing loss
tinnitus
bilateral vestibular schwannomas
ependymomas
meningiomas
|
|
gptkbp:treatment
|
surgery
radiation therapy
auditory brainstem implants
|
|
gptkbp:bfsParent
|
gptkb:schwannoma
|
|
gptkbp:bfsLayer
|
6
|