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Details
Link-It Detail - Disease - Factor V Deficiency
Debug Stats
  • ### Total Build Time: 25 ms 26.738 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 447 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.427 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 5.443 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 11.563 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.168 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Factor V Deficiency C0015499
Definition (1)
A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Hemorrhagic Disorders C0019087
img Coagulation Protein Disorders C0600503
img Blood Coagulation Disorders, Inherited C0852077
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Hemorrhagic Disorders C0019087
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Coagulation Protein Disorders C0600503
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Blood Coagulation Disorders, Inherited C0852077
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Blood Coagulation Disorders, Inherited C0852077
Relationships (24)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 4
diso_​to_​diso : 13
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
manifestation_​of : 7
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN53img genetic aspects C0017399
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_CHEM44img Factor V C0015498
DISO_to_CHEM38img Factor V C0015498
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_ANAT27img In Blood C0005768
DISO_to_DISO26img Hemophilia A C0019069
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_CHEM13img Lectin, Mannose-Specific C0065693
DISO_to_CHEM13img Membrane Associated Proteins C0025252
DISO_to_PHYS13img Mutation C0026882
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOisaimg Acquired factor V deficiency disease C0272319
DISO_to_DISOmapped_toimg BDPLT5 C1866423
DISO_to_DISOmanifestation_ofimg Bleeding episodes (epistaxis, menorrhagia, ecchymosis) C2673578
DISO_to_DISOmanifestation_ofimg Caused by mutation in the coagulation factor V gene (F5, 612309.0004) C2673580
DISO_to_DISOpermuted_term_ofimg Factor V Deficiency C0015499
DISO_to_DISOmanifestation_ofimg Heterozygotes are usually asymptomatic C2673582
DISO_to_DISOmanifestation_ofimg Incidence of 1 in 1,000,000 C2673581
DISO_to_DISOmanifestation_ofimg Prolonged activated partial thromboplastin time (APTT) C1837411
DISO_to_DISOmanifestation_ofimg Prolonged bleeding C2673579
DISO_to_DISOmanifestation_ofimg Prolonged prothrombin time (PT) C2673577
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanMCFD290411multiple coagulation factor deficiency 2
img OMIM, Score=1000, UMLKSK CUI: C0015499
HumanLMAN13998lectin, mannose-binding, 1
img OMIM, Score=1000, UMLKSK CUI: C0015499
HumanFGA2243fibrinogen alpha chain
img GENERIF, Score=923, Pubmed Id: 11914657, UMLKSK CUI: C0015499
HumanF52153coagulation factor V (proaccelerin, labile factor)
img GENERIF, Score=1000, Pubmed Id: 15961511, UMLKSK CUI: C0015499
img GENERIF, Score=1000, Pubmed Id: 18989519, UMLKSK CUI: C0015499
img GENERIF, Score=923, Pubmed Id: 12239164, UMLKSK CUI: C0015499
img OMIM, Score=1000, UMLKSK CUI: C0015499
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0015499Factor V Deficiency0self