Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:associatedWith |
gptkb:schwannoma
|
| gptkbp:characterizedBy |
multiple schwannomas
|
| gptkbp:diagnosedBy |
MRI
genetic testing |
| gptkbp:distinctFrom |
gptkb:neurofibromatosis_type_2
gptkb:neurofibromatosis_type_1 |
| gptkbp:firstDescribed |
2005
|
| https://www.w3.org/2000/01/rdf-schema#label |
schwannomatosis
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:LZTR1_gene
gptkb:SMARCB1_gene |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
pain
muscle weakness numbness |
| gptkbp:treatment |
surgery
pain management |
| gptkbp:bfsParent |
gptkb:Neurofibromatosis_type_1
gptkb:SMARCB1 |
| gptkbp:bfsLayer |
6
|