Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:associatedWith |
increased risk of kidney cancer
|
| gptkbp:characterizedBy |
gptkb:spontaneous_pneumothorax
fibrofolliculomas renal tumors acrochordons pulmonary cysts trichodiscomas |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1977
Arthur R. Birt Georgina R. Hogg William P. Dubé |
| https://www.w3.org/2000/01/rdf-schema#label |
Birt-Hogg-Dubé syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FLCN_gene
|
| gptkbp:OMIM |
135150
|
| gptkbp:otherName |
Hornstein-Knickenberg syndrome
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
skin lesions
lung cysts renal neoplasms |
| gptkbp:treatment |
symptomatic management
surveillance for renal tumors |
| gptkbp:bfsParent |
gptkb:renal_cell_carcinoma
|
| gptkbp:bfsLayer |
6
|