Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/601709
http://purl.bioontology.org/ontology/OMIM/601709
Preferred Name

QUEBEC PLATELET DISORDER
Synonyms
FACTOR V QUEBEC
QPD
BDPLT5
BLEEDING DISORDER, PLATELET-TYPE, 5
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FACTOR V QUEBEC
QPD
BDPLT5
BLEEDING DISORDER, PLATELET-TYPE, 5
prefLabel
QUEBEC PLATELET DISORDER
Gene Symbol
QPD
URK
PLAU
BDPLT5
Scope Statement
Bleeding is usually delayed-onset after challenge [MISCELLANEOUS]
Good response to fibrinolytic inhibitors [MISCELLANEOUS]
Prevalence of 1 in 300,000 in Quebec [MISCELLANEOUS]
Caused by tandem duplication of the urinary plasminogen activator gene (PLAU, 191840.0002) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU020382
http://purl.bioontology.org/ontology/OMIM/MTHU033253
http://purl.bioontology.org/ontology/OMIM/MTHU020384
http://purl.bioontology.org/ontology/OMIM/MTHU020383
http://purl.bioontology.org/ontology/OMIM/MTHU020387
http://purl.bioontology.org/ontology/OMIM/MTHU020390
http://purl.bioontology.org/ontology/OMIM/MTHU020381
http://purl.bioontology.org/ontology/OMIM/MTHU033250
http://purl.bioontology.org/ontology/OMIM/MTHU020389
http://purl.bioontology.org/ontology/OMIM/MTHU020388
http://purl.bioontology.org/ontology/OMIM/MTHU020391
http://purl.bioontology.org/ontology/OMIM/MTHU020386
http://purl.bioontology.org/ontology/OMIM/MTHU033251
http://purl.bioontology.org/ontology/OMIM/MTHU020385
http://purl.bioontology.org/ontology/OMIM/MTHU033252
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tui
T047
Gene Locus
10q24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
601709
Semantic type UMLS property
Has inheritance type
cui
C1866423
OMIM Entry Type
3
OMIM MimType Value
pound
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