loading...| Preferred Name |
Birt-Hogg-Dubé syndrome |
|
| Synonyms |
Hornstein-Knickenberg syndrome |
|
| Definitions |
A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_122 |
|
| alternative_term |
Hornstein-Knickenberg syndrome Fibrofolliculomas with trichodiscomas and acrochordons |
|
| definition |
A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 |
|
| has_age_of_onset |
Adult Elderly |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
ICD-10:C44.9 OMIM:135150 MedDRA:10067736 ICD-11:LD27.5 MeSH:D058249 UMLS:C0346010 |
|
| label |
Birt-Hogg-Dubé syndrome |
|
| notation |
ORPHA:122 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_363250 http://www.orpha.net/ORDO/Orphanet_79386 http://www.orpha.net/ORDO/Orphanet_183487 http://www.orpha.net/ORDO/Orphanet_319328 |
|
| prefixIRI |
ORDO:Orphanet_122 |
|
| prefLabel |
Birt-Hogg-Dubé syndrome |
|
| present_in |
Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_363250 http://www.orpha.net/ORDO/Orphanet_79386 http://www.orpha.net/ORDO/Orphanet_183487 http://www.orpha.net/ORDO/Orphanet_319328 |
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| subClassOf |