|
gptkbp:instance_of
|
gptkb:neurofibromatosis
|
|
gptkbp:affects
|
both genders
|
|
gptkbp:associated_with
|
increased risk of certain cancers
|
|
gptkbp:can_detect
|
gptkb:MRI
genetic testing
physical examination
|
|
gptkbp:can_lead_to
|
disability
hypertension
chronic pain
psychosocial issues
scoliosis
|
|
gptkbp:caused_by
|
gptkb:mutation_in_NF1_gene
|
|
gptkbp:condition
|
gptkb:neurofibromatosis_type_2
gptkb:schwannomatosis
|
|
gptkbp:diagnosis
|
clinical evaluation
|
|
gptkbp:first_described_by
|
1863
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
neurofibromatosis type 1
|
|
gptkbp:inherits_from
|
autosomal dominant inheritance
|
|
gptkbp:is_associated_with
|
gptkb:neurofibromatosis_type_2
gptkb:schwannomatosis
social challenges
academic challenges
cognitive impairment
emotional difficulties
NF1 protein dysfunction
family history of NF1
|
|
gptkbp:is_characterized_by
|
neurological issues
skin changes
cognitive challenges
multiple tumors
visual problems
|
|
gptkbp:is_common_in
|
gptkb:children
families
adults
|
|
gptkbp:is_managed_by
|
gptkb:psychology
geneticists
oncologists
neurologists
multidisciplinary team
|
|
gptkbp:is_studied_in
|
gptkb:medical_research
gptkb:Genetics
neurology
oncology
pediatrics
|
|
gptkbp:prevalence
|
1 in 3,000 births
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
clinical trials
|
|
gptkbp:symptoms
|
gptkb:optic_gliomas
learning disabilities
neurofibromas
bone deformities
cafe-au-lait spots
|
|
gptkbp:treatment
|
gptkb:surgery
medications
genetic counseling
|
|
gptkbp:bfsParent
|
gptkb:sarcophagus
gptkb:Selumetinib
gptkb:primary_glioblastoma
gptkb:secondary_glioblastoma
gptkb:neurofibromatosis
|
|
gptkbp:bfsLayer
|
5
|