Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system bones |
| gptkbp:alsoKnownAs |
gptkb:NBCCS
nevoid basal cell carcinoma syndrome |
| gptkbp:characterizedBy |
skeletal abnormalities
calcification of falx cerebri medulloblastoma risk multiple basal cell carcinomas odontogenic keratocysts palmar or plantar pits |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
Robert J. Gorlin
|
| https://www.w3.org/2000/01/rdf-schema#label |
Gorlin syndrome
|
| gptkbp:ICD-10_code |
Q82.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
PTCH1 gene
SUFU gene |
| gptkbp:OMIM |
109400
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:medulloblastoma
basal cell carcinoma jaw cysts |
| gptkbp:treatment |
genetic counseling
surgical removal of tumors regular skin examinations |
| gptkbp:bfsParent |
gptkb:medulloblastoma
|
| gptkbp:bfsLayer |
6
|