Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Preferred Name

FACTOR V DEFICIENCY
Synonyms

PARAHEMOPHILIA

LABILE FACTOR DEFICIENCY

OWREN PARAHEMOPHILIA
ID

http://purl.bioontology.org/ontology/OMIM/227400
altLabel

PARAHEMOPHILIA

LABILE FACTOR DEFICIENCY

OWREN PARAHEMOPHILIA
cui

C0015499
Gene Locus

1q23
Gene Symbol

RPRGL1

F5

THPH2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU023373

http://purl.bioontology.org/ontology/OMIM/MTHU023371

http://purl.bioontology.org/ontology/OMIM/MTHU023372

http://purl.bioontology.org/ontology/OMIM/MTHU023369

http://purl.bioontology.org/ontology/OMIM/MTHU023370
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

227400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FACTOR V DEFICIENCY
Scope Statement

Caused by mutation in the coagulation factor V gene (F5, 612309.0004) [MOLECULAR BASIS]

Heterozygotes are usually asymptomatic [MISCELLANEOUS]

Incidence of 1 in 1,000,000 [MISCELLANEOUS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/D68.2 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DC-63060 SNMI CUI
http://purl.bioontology.org/ontology/RCD/D3032 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001199 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D005166 MESH CUI
http://purl.bioontology.org/ontology/SNMI/DC-63050 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/88776002 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D005166 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88776002 SNOMEDCT CUI
http://purl.obolibrary.org/obo/DOID_2216 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2216 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2216 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2216 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2216 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2216 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2216 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.141.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005166 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200674 NANDO LOOM
http://purl.bioontology.org/ontology/RCD/D3032 RCD LOOM
http://purl.bioontology.org/ontology/MESH/D005166 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.300 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0015499 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048930 MEDDRA LOOM
http://purl.jp/bio/4/id/200906082120791772 IOBC LOOM
http://purl.obolibrary.org/obo/DERMO_0000638 DERMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131738 NCIT LOOM
http://id.nlm.nih.gov/mesh/D005166 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0020586 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0020586 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020586 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020586 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.300 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_227400 CCO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/4320005 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2216 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037371 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4856 OCHV LOOM
http://www.semanticweb.org/ontologies/2010/10/BPO.owl#factor_V_deficiency BHO LOOM
http://purl.obolibrary.org/obo/OMIT_0006390 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.300 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C131738 BERO LOOM
http://identifiers.org/omim/227400 REXO LOOM
http://identifiers.org/omim/227400 GEXO LOOM
http://identifiers.org/omim/227400 RETO LOOM