Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Neurofibromatosis type 2
|
| 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 |
surgery
radiation therapy auditory brainstem implants |
| gptkbp:bfsParent |
gptkb:Neurofibromatosis_type_1
|
| gptkbp:bfsLayer |
6
|