Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:alsoKnownAs |
gptkb:Gorlin_syndrome
|
| gptkbp:characterizedBy |
skeletal abnormalities
calcification of falx cerebri jaw keratocysts multiple basal cell carcinomas palmar or plantar pits |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
1960
Robert J. Gorlin |
| gptkbp:fullName |
Nevoid Basal Cell Carcinoma Syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
NBCCS
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
multidisciplinary care
|
| gptkbp:mutationAssociatedWith |
PTCH1 gene
|
| gptkbp:OMIM |
109400
|
| gptkbp:prevalence |
1 in 31,000
|
| gptkbp:riskFactor |
gptkb:medulloblastoma
ovarian fibromas |
| gptkbp:treatment |
genetic counseling
regular surveillance surgical removal of tumors |
| gptkbp:bfsParent |
gptkb:PTCH1
gptkb:Gorlin_syndrome |
| gptkbp:bfsLayer |
7
|