gptkbp:instanceOf
|
genetic disorder
syndrome
|
gptkbp:affects
|
humans
|
gptkbp:alsoKnownAs
|
familial colorectal polyposis with extracolonic manifestations
|
gptkbp:associatedWith
|
gptkb:familial_adenomatous_polyposis
|
gptkbp:characterizedBy
|
desmoid tumors
epidermoid cysts
osteomas
colorectal polyps
dental abnormalities
soft tissue tumors
|
gptkbp:diagnosedBy
|
genetic testing
colonoscopy
|
gptkbp:field
|
gptkb:medicine
genetics
|
gptkbp:firstDescribed
|
gptkb:Eldon_J._Gardner
1951
|
https://www.w3.org/2000/01/rdf-schema#label
|
Gardner syndrome
|
gptkbp:ICD-10_code
|
Q85.8
|
gptkbp:inheritance
|
autosomal dominant
|
gptkbp:mutationAssociatedWith
|
gptkb:APC_gene
|
gptkbp:OMIM
|
175100
|
gptkbp:prevalence
|
rare
|
gptkbp:riskFactor
|
colorectal cancer
|
gptkbp:symptom
|
dental anomalies
desmoid fibromas
jaw osteomas
multiple colon polyps
skin cysts
|
gptkbp:treatment
|
management of extracolonic tumors
prophylactic colectomy
|
gptkbp:bfsParent
|
gptkb:Familial_adenomatous_polyposis
gptkb:familial_adenomatous_polyposis
|
gptkbp:bfsLayer
|
6
|