Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:skin
lungs kidneys |
| gptkbp:firstDescribed |
gptkb:Georgina_Hogg
gptkb:Arthur_Birt gptkb:William_Dubé 1977 |
| gptkbp:fullName |
gptkb:Birt-Hogg-Dubé_syndrome
|
| gptkbp:hasGeneticTest |
FLCN gene sequencing
|
| https://www.w3.org/2000/01/rdf-schema#label |
BHDS
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
dermatological care
monitoring for lung cysts regular kidney imaging |
| gptkbp:mutationAssociatedWith |
gptkb:FLCN_gene
|
| gptkbp:OMIM |
135150
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
renal cell carcinoma
|
| gptkbp:symptom |
gptkb:spontaneous_pneumothorax
fibrofolliculomas lung cysts renal tumors |
| gptkbp:bfsParent |
gptkb:Bachelor_of_Human_Development_Science
|
| gptkbp:bfsLayer |
7
|