Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/173600 http://purl.bioontology.org/ontology/OMIM/173600
Preferred Name	PNEUMOTHORAX, PRIMARY SPONTANEOUS
Synonyms	PSP
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PSP
prefLabel	PNEUMOTHORAX, PRIMARY SPONTANEOUS
Gene Symbol	FLCN BHD
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]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU016218 http://purl.bioontology.org/ontology/OMIM/MTHU016217 http://purl.bioontology.org/ontology/OMIM/MTHU016219
tui	T047
Gene Locus	17p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	173600
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1868193
OMIM Entry Type	3
OMIM MimType Value	pound

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