|
gptkbp:instanceOf
|
genetic disorder
|
|
gptkbp:affects
|
gptkb:nervous_system
|
|
gptkbp:causedBy
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Neurofibromatosis
|
|
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:drug
surgery
radiation therapy
|
|
gptkbp:bfsParent
|
gptkb:Intracranial_Tumors
gptkb:cancer_predisposition_syndrome
|
|
gptkbp:bfsLayer
|
6
|