Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:alternativeName |
gptkb:Bannayan_syndrome
gptkb:Bannayan-Riley-Ruvalcaba_syndrome |
| gptkbp:associatedWith |
increased risk of cancer
|
| gptkbp:characterizedBy |
developmental delay
macrocephaly hemangiomas intestinal polyposis lipomas pigmented macules on the penis |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:George_A._Bannayan
1971 |
| https://www.w3.org/2000/01/rdf-schema#label |
Bannayan-Zonana syndrome
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PTEN_gene
|
| gptkbp:OMIM |
153480
|
| gptkbp:partOf |
gptkb:PTEN_hamartoma_tumor_syndrome_spectrum
|
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
|
| gptkbp:bfsLayer |
6
|