brain tumor-polyposis syndrome
GPTKB entity
Statements (19)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:alsoKnownAs |
gptkb:Turcot_syndrome
|
gptkbp:associatedWith |
gptkb:medulloblastoma
gptkb:glioblastoma colorectal polyps primary brain tumors |
gptkbp:diagnosedBy |
genetic testing
|
gptkbp:firstDescribed |
1959
|
https://www.w3.org/2000/01/rdf-schema#label |
brain tumor-polyposis syndrome
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:mutationAssociatedWith |
gptkb:APC_gene
MMR genes |
gptkbp:OMIM |
276300
|
gptkbp:riskFactor |
colorectal cancer
brain cancer |
gptkbp:symptom |
neurological symptoms
gastrointestinal polyps |
gptkbp:bfsParent |
gptkb:Turcot_syndrome
|
gptkbp:bfsLayer |
7
|