Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
gptkb:genetic_disorder
|
| gptkbp:complication |
malignant peripheral nerve sheath tumor
|
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:field |
genetics
neurology |
| gptkbp:firstDescribed |
gptkb:Friedrich_Daniel_von_Recklinghausen
|
| gptkbp:hasType |
gptkb:Neurofibromatosis_type_2
gptkb:Schwannomatosis gptkb:Neurofibromatosis_type_1 |
| gptkbp:ICD-10_code |
Q85.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:involvedIn |
gptkb:LZTR1_gene
gptkb:NF1_gene gptkb:NF2_gene gptkb:SMARCB1_gene |
| gptkbp:MeSH_ID |
D009445
|
| gptkbp:OMIM |
162200
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
1 in 3,000 people
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
hearing loss
learning disabilities café-au-lait spots neurofibromas |
| gptkbp:treatment |
gptkb:radiation_therapy
gptkb:drug surgery |
| gptkbp:bfsParent |
gptkb:Intracranial_Tumors
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Neurofibromatosis
|