Neurofibromatosis type 1

GPTKB entity

Statements (61)
Predicate Object
gptkbp:instance_of gptkb:neurofibromatosis
gptkbp:acquired_by genetic testing
gptkbp:affects gptkb:computer
any race or ethnicity
gptkbp:can_be_used_to freckling in armpits or groin
gptkbp:can_cause learning disabilities
gptkbp:can_lead_to psychosocial issues
neurofibromas
gptkbp:can_result_in chronic pain
gptkbp:cause tumors
gptkbp:complications hypertension
gptkbp:condition varies in severity
requires lifelong monitoring.
gptkbp:diagnosis clinical criteria
childhood or early adulthood
gptkbp:exhibits skeletal abnormalities
gptkbp:has_a_focus_on clinical trials
gptkbp:has_achieved cardiovascular issues
endocrine disorders
scoliosis
https://www.w3.org/2000/01/rdf-schema#label Neurofibromatosis type 1
gptkbp:inherits_from autosomal dominant
gptkbp:is_a_lifelong_condition_that requires ongoing care
gptkbp:is_a_subject_of public awareness campaigns
genetic research
gptkbp:is_associated_with gptkb:optic_gliomas
seizures
vision problems
hearing loss
learning difficulties
gptkbp:is_associated_with_an_increased_risk_of learning disabilities
certain cancers
gptkbp:is_characterized_by gptkb:plexiform_neurofibromas
neurofibromas
cafe-au-lait spots
gptkbp:is_common_in both sexes equally
gptkbp:is_evaluated_by psychological impact
neurological function
gptkbp:is_linked_to cognitive challenges
gptkbp:is_linked_to_mutations_in gptkb:NF1_gene
gptkbp:is_managed_by gptkb:surgery
multidisciplinary teams
gptkbp:is_monitored_by malignant peripheral nerve sheath tumors
gptkbp:is_often_discussed_in gptkb:literature
gptkbp:is_often_featured_in patient stories
gptkbp:is_often_researched_in genetics and oncology
gptkbp:is_often_seen_in other genetic syndromes
gptkbp:is_part_of neurofibromatosis disorders
gptkbp:is_recognized_by Lisch nodules
the presence of multiple neurofibromas
gptkbp:is_studied_in tumor biology
gptkbp:known_as gptkb:NF1
gptkbp:occurs_in 1 in 3,000 births
gptkbp:often_includes genetic screening programs
gptkbp:provides_support_for patient advocacy groups
gptkbp:requires genetic counseling
gptkbp:scientific_classification genetic disorders
gptkbp:treatment targeted therapies
symptomatic management
gptkbp:bfsParent gptkb:neurofibromatosis
gptkbp:bfsLayer 5