neurofibromatosis type II

URI: https://gptkb.org/entity/neurofibromatosis_type_II

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:rare_disease
gptkbp:alsoKnownAs	gptkb:NF2
gptkbp:complication	deafness facial nerve palsy spinal cord tumors
gptkbp:diagnosedBy	MRI genetic testing
gptkbp:distinctFrom	gptkb:neurofibromatosis_type_I
gptkbp:firstDescribed	gptkb:Wishart
gptkbp:hasPatientSupportGroup	gptkb:Children's_Tumor_Foundation gptkb:Neurofibromatosis_Network
gptkbp:hasResearchFoundation	gptkb:Neurofibromatosis_Type_2_Research_and_Education_Foundation
gptkbp:ICD-10_code	Q85.0
gptkbp:inheritance	autosomal dominant
gptkbp:locatedOnChromosome	gptkb:chromosome_22q12.2
gptkbp:mutationAssociatedWith	gptkb:NF2_gene
gptkbp:namedAfter	neurofibromatosis
gptkbp:OMIM	101000
gptkbp:onset	adolescence early adulthood
gptkbp:prevalence	1 in 25,000 to 1 in 40,000
gptkbp:proteinAffected	merlin
gptkbp:riskFactor	family history of NF2
gptkbp:symptom	gptkb:cataracts balance problems hearing loss tinnitus bilateral vestibular schwannomas ependymomas meningiomas
gptkbp:treatment	gptkb:bevacizumab gptkb:radiation_therapy surgery
gptkbp:bfsParent	gptkb:Tumors_of_the_Nervus_Acusticus
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	neurofibromatosis type II