Preferred Name

Birt-Hogg-Dube syndrome

Synonyms

Birt-Hogg-Dube syndrome

fibrofolliculomas with trichodiscomas and acrochordons

Birt-Hogg-Dubé syndrome

BHD

Birt Hogg Dube syndrome

BHD syndrome

Hornstein-Knickenberg syndrome

Definitions

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

ID

http://purl.obolibrary.org/obo/MONDO_0007607

has_exact_synonym

Birt-Hogg-Dube syndrome

fibrofolliculomas with trichodiscomas and acrochordons

has_related_synonym

Birt-Hogg-Dubé syndrome

BHD

Birt Hogg Dube syndrome

BHD syndrome

Hornstein-Knickenberg syndrome

label

Birt-Hogg-Dube syndrome

prefixIRI

MONDO:0007607

prefLabel

Birt-Hogg-Dube syndrome

textual definition

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0021163

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0015950

http://purl.obolibrary.org/obo/MONDO_0017891

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http://purl.obolibrary.org/obo/MONDO_0007607 MONDO SAME_URI
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28244 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8627 HRDO LOOM
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http://purl.obolibrary.org/obo/DERMO_0000599 DERMO LOOM
http://identifiers.org/omim/135150 REXO LOOM
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http://purl.bioontology.org/ontology/RCD/X78SQ RCD LOOM
http://purl.bioontology.org/ontology/RCTV2/B76C.00 RCTV2 LOOM