Preferred Name |
Birt-Hogg-Dube Syndrome [Disease/Finding] |
|
Synonyms |
Birt-Hogg-Dubé Syndrome |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000182194 |
|
altLabel |
Birt-Hogg-Dubé Syndrome Hornstein-Birt-Hogg-Dubé Syndrome Fibrofolliculomas with Trichodiscomas and Acrochordons Birt-Hogg-Dube Syndrome Hornstein-Knickenberg Syndrome |
|
cui |
C0346010 |
|
MESH DEFINITION |
Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein). |
|
MESH DUI |
D058249 |
|
MeSH name |
Birt-Hogg-Dube Syndrome |
|
MESH UI |
M0541547 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000182194 |
|
NUI |
N0000182194 |
|
prefLabel |
Birt-Hogg-Dube Syndrome [Disease/Finding] |
|
tui |
T047 |
|
subClassOf |
Create mapping