Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:alsoKnownAs |
gptkb:Neurofibromatosis_type_I
|
| gptkbp:causedBy |
mutation in NF1 gene
|
| gptkbp:complication |
learning disabilities
bone deformities malignant peripheral nerve sheath tumors |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
gptkb:Friedrich_Daniel_von_Recklinghausen
|
| https://www.w3.org/2000/01/rdf-schema#label |
Recklinghausen's disease
|
| gptkbp:ICD-10_code |
Q85.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
162200
|
| gptkbp:prevalence |
1 in 3,000 individuals
|
| gptkbp:riskFactor |
increased risk of certain cancers
|
| gptkbp:symptom |
gptkb:Lisch_nodules
café-au-lait spots neurofibromas axillary freckling |
| gptkbp:treatment |
symptomatic management
surgical removal of tumors |
| gptkbp:bfsParent |
gptkb:Friedrich_Daniel_von_Recklinghausen
|
| gptkbp:bfsLayer |
7
|