Experimental Factor Ontology

Last uploaded: June 18, 2024

Preferred Name	obsolete_Birt-Hogg-Dube Syndrome
Synonyms	multiple fibrofolliculomas
Definitions	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).
ID	http://www.ebi.ac.uk/efo/EFO_1001273
Obsolete	true
database_cross_reference	OMIM:135150 MedDRA:10067736 NCIt:C28244 SNOMEDCT:110985001 DOID:0050676 MeSH:D058249
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).
deprecated	true
has_exact_synonym	multiple fibrofolliculomas
label	obsolete_Birt-Hogg-Dube Syndrome
obsoleted_in_version	2.98
organizational_class	true
prefixIRI	efo1:EFO_1001273
prefLabel	obsolete_Birt-Hogg-Dube Syndrome
reason_for_obsolescence	Duplication Use http://www.orpha.net/ORDO/Orphanet_122 Label : Birt-Hogg-Dubé syndrome
term editor	Sirarat Sarntivijai
term replaced by	http://www.orpha.net/ORDO/Orphanet_122
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0007607	MONDO	LOOM