|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:rare_disease
|
|
gptkbp:cause
|
ependymomas
meningiomas
schwannomas
|
|
gptkbp:complication
|
deafness
paralysis
vision loss
|
|
gptkbp:diagnosedBy
|
MRI
genetic testing
|
|
gptkbp:feature
|
bilateral vestibular schwannomas
|
|
gptkbp:field
|
genetics
neurology
|
|
gptkbp:firstDescribed
|
1822
|
|
gptkbp:ICD-10_code
|
Q85.0
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:MeSH_ID
|
gptkb:D009474
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NF2_gene
|
|
gptkbp:namedAfter
|
neurofibromas
|
|
gptkbp:OMIM
|
101000
|
|
gptkbp:onset
|
adolescence or early adulthood
|
|
gptkbp:otherName
|
gptkb:NF2
central neurofibromatosis
|
|
gptkbp:prevalence
|
about 1 in 25,000 to 1 in 40,000 people
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:cataracts
balance problems
hearing loss
facial weakness
tinnitus
|
|
gptkbp:treatment
|
gptkb:radiation_therapy
surgery
auditory brainstem implants
|
|
gptkbp:bfsParent
|
gptkb:Neurofibromatosis
gptkb:Neurofibromatosis_type_1
gptkb:Inherited_Cancer_Syndromes
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Neurofibromatosis type 2
|