Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	PNEUMOTHORAX, PRIMARY SPONTANEOUS
Synonyms	PSP
ID	http://purl.bioontology.org/ontology/OMIM/173600
altLabel	PSP
cui	C1868193
Gene Locus	17p11.2
Gene Symbol	FLCN BHD
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU016218 http://purl.bioontology.org/ontology/OMIM/MTHU016217 http://purl.bioontology.org/ontology/OMIM/MTHU016219
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	173600
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PNEUMOTHORAX, PRIMARY SPONTANEOUS
Scope Statement	Caused by mutation in the folliculin gene (FLCN, 607273.0009) [MOLECULAR BASIS] Majority of cases are sporadic, often in tall, thin men [MISCELLANEOUS] Allelic to Birt-Hogg-Dube syndrome (135150) [MISCELLANEOUS] Bullae are located randomly in familial cases and apical in sporadic cases [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10073762	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10073762	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/J93.11	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/328561000119107	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD9CM/512.81	ICD9CM	CUI
http://purl.bioontology.org/ontology/MESH/D011030	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10073762	MEDDRA	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566795	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D011030	MDM	LOOM