Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:associatedWith |
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
gptkb:Cowden_syndrome gptkb:Proteus-like_syndrome |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
late 1990s
|
| gptkbp:hasOrphanetID |
ORPHA:276152
|
| https://www.w3.org/2000/01/rdf-schema#label |
PHTS
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PTEN_gene
|
| gptkbp:OMIM |
601728
|
| gptkbp:riskFactor |
gptkb:cancer
gptkb:endometrial_cancer colorectal cancer melanoma renal cell carcinoma |
| gptkbp:standsFor |
gptkb:PTEN_Hamartoma_Tumor_Syndrome
|
| gptkbp:symptom |
macrocephaly
hamartomas mucocutaneous lesions |
| gptkbp:treatment |
surveillance
risk-reducing surgery symptomatic management |
| gptkbp:bfsParent |
gptkb:PTEN_hamartoma_tumor_syndrome
|
| gptkbp:bfsLayer |
7
|