Properties (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurofibromatosis
|
| gptkbp:associatedWith |
support groups
research funding employment challenges social stigma advocacy organizations skin changes insurance issues bone deformities educational accommodations Lisch nodules freckling in armpits or groin neurocognitive issues vascular abnormalities cafe-au-lait_spots |
| gptkbp:causedBy |
neurofibromas
|
| gptkbp:complications |
hypertension
malignant peripheral nerve sheath tumors optic gliomas |
| gptkbp:demographics |
1 in 3,000 births
|
| gptkbp:diseaseResistance |
gptkb:von_Hippel-Lindau_disease
genetic testing clinical evaluation hereditary breast and ovarian cancer syndrome neurofibromatosis type 2 tuberous sclerosis variable outcomes early intervention improves quality of life monitoring for complications is essential schwannomatosis |
| gptkbp:firstDescribedBy |
gptkb:Friedrich_Daniel_von_Recklinghausen
|
| gptkbp:geneticDiversity |
mutation in NF1 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Recklinghausen's disease
|
| gptkbp:impact |
psychological support
pain management surgical removal of tumors |
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:previouslyKnownAs |
neurofibromatosis type 1
|
| gptkbp:researchFocus |
clinical trials
gene therapy patient registries targeted therapies longitudinal studies |
| gptkbp:riskManagement |
environmental factors
family history genetic mutations |
| gptkbp:symptoms |
seizures
learning disabilities scoliosis |