|
gptkbp:instanceOf
|
gptkb:syndrome
gptkb:genetic_disorder
|
|
gptkbp:alsoKnownAs
|
gptkb:multiple_hamartoma_syndrome
|
|
gptkbp:associatedWith
|
increased risk of breast cancer
macrocephaly
increased risk of endometrial cancer
hamartomas
increased risk of thyroid cancer
mucocutaneous lesions
|
|
gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
|
gptkbp:firstDescribed
|
1963
Lloyd and Dennis
|
|
gptkbp:guidanceSystem
|
gptkb:NCCN_Guidelines
|
|
gptkbp:hasDatabaseEntry
|
gptkb:GeneReviews
gptkb:Genetics_Home_Reference
gptkb:Orphanet
|
|
gptkbp:hasGeneticTest
|
PTEN deletion/duplication analysis
PTEN sequencing
|
|
gptkbp:ICD-10_code
|
Q85.8
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:managedBy
|
cancer surveillance
risk-reducing surgery
|
|
gptkbp:mutationAssociatedWith
|
gptkb:PTEN_gene
|
|
gptkbp:OMIM
|
158350
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:relatedTo
|
gptkb:PTEN_hamartoma_tumor_syndrome
|
|
gptkbp:riskFactor
|
gptkb:cancer
gptkb:renal_cell_carcinoma
gptkb:endometrial_cancer
gptkb:melanoma
colorectal cancer
|
|
gptkbp:supportersGroup
|
gptkb:PTEN_Hamartoma_Tumor_Syndrome_Foundation
|
|
gptkbp:symptom
|
gptkb:fibrocystic_breast_disease
acral keratoses
gastrointestinal polyps
oral papillomas
thyroid nodules
trichilemmomas
|
|
gptkbp:bfsParent
|
gptkb:HGNC:9873
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Cowden syndrome
|