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Details
Link-It Detail - Disease - von Willebrand Disease, Type 1
Debug Stats
  • ### Total Build Time: 45 ms 16.872 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 254 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
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=12 ms Completed: 12 ms rowSize= 4.126 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 8.683 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.537 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
von Willebrand Disease, Type 1 C1264039
Definition (1)
A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img von Willebrand Diseases C0042974
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img von Willebrand Diseases C0042974
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189396img von Willebrand Diseases C0042974
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img von Willebrand Diseases C0042974
Relationships (19)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 14
diso_​to_​gene : 4


Relationships:
none : 1
alias_​of : 1
manifestation_​of : 13
related_​to : 4
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM18img von Willebrand Factor C0042971
DISO_to_DISOmanifestation_ofimg Caused by mutation in the von Willebrand factor gene (VWF, 613160.0028) C3150071
DISO_to_DISOmanifestation_ofimg Decreased levels of plasma VWF antigen C3150067
DISO_to_DISOmanifestation_ofimg Decreased levels of plasma factor VIII C3150068
DISO_to_DISOmanifestation_ofimg Defect in platelet aggregation C1855853
DISO_to_DISOmanifestation_ofimg Epistaxis C0014591
DISO_to_DISOalias_ofimg Hereditary von Willebrand disease type 1 C1264039
DISO_to_DISOmanifestation_ofimg Highly variable phenotype C1865012
DISO_to_DISOmanifestation_ofimg Incomplete penetrance C1836598
DISO_to_DISOmanifestation_ofimg Increased tendency to bruise C0423798
DISO_to_DISOmanifestation_ofimg Menorrhagia C0025323
DISO_to_DISOmanifestation_ofimg Most common inherited bleeding disorder C3150073
DISO_to_DISOmanifestation_ofimg Mucocutaneous bleeding C3150070
DISO_to_DISOmanifestation_ofimg Prolonged bleeding time due to quantitative decrease of VWF protein C3150069
DISO_to_DISOmanifestation_ofimg Variably expressivity C3150072
DISO_to_GENErelated_toimg VON WILLEBRAND DISEASE, TYPE 2N, ARG854GLN C3150432
DISO_to_GENErelated_toimg VON WILLEBRAND DISEASE, TYPE 3, 8.6-KB DEL, EX4-5 C3150455
DISO_to_GENErelated_toimg VON WILLEBRAND DISEASE, TYPE 3, ARG1659TER C3150433
DISO_to_GENErelated_toimg VON WILLEBRAND DISEASE, TYPE 3, ARG1852TER C3150434
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanVWF7450von Willebrand factor
img GAD, Score=946, Pubmed Id: 12649144, UMLKSK CUI: C1264039
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1264039von Willebrand Disease, Type 10self