Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary cancer syndrome |
| gptkbp:associatedWith |
sebaceous gland tumors
visceral malignancies |
| gptkbp:diagnosedBy |
genetic testing
skin biopsy |
| gptkbp:field |
oncology
dermatology |
| gptkbp:firstDescribed |
1967
Douglas Torre Egidio Muir |
| https://www.w3.org/2000/01/rdf-schema#label |
Muir-Torre syndrome
|
| gptkbp:ICD-10_code |
Q85.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:MLH1
gptkb:MSH2 gptkb:MSH6 DNA mismatch repair genes |
| gptkbp:OMIM |
158320
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Lynch_syndrome
|
| gptkbp:riskFactor |
family history of Lynch syndrome
|
| gptkbp:symptom |
gptkb:endometrial_cancer
colorectal cancer urothelial cancer keratoacanthoma sebaceous adenoma sebaceous carcinoma |
| gptkbp:treatment |
cancer surveillance
surgical excision of tumors |
| gptkbp:bfsParent |
gptkb:Inherited_Cancer_Syndromes
|
| gptkbp:bfsLayer |
7
|