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Details
Link-It Detail - Disease - Factor XI Deficiency
Debug Stats
  • ### Total Build Time: 17 ms 28.378 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 422 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=0 Completed: 0 ms rowSize= 5.443 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 8.755 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 10.638 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Factor XI Deficiency C0015523
Definition (1)
A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.
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 Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Blood Coagulation Disorders, Inherited C0852077
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Blood Coagulation Disorders, Inherited C0852077
Relationships (17)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 2
diso_​to_​diso : 8
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
classifies : 2
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 2
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_CHEM35img Factor XI C0015522
DISO_to_CHEM27img Factor XI C0015522
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_ANAT21img In Blood C0005768
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS12img 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_DISOclassifiesimg Blood Coagulation Disorders C0005779
DISO_to_DISOclassifiesimg Coagulation and hemorrhagic disorders C0809979
DISO_to_DISOmapped_toimg Factor XI Deficiency C0015523
DISO_to_DISOisaimg Factor XI deficiency, type I C0272329
DISO_to_DISOisaimg Factor XI deficiency, type II C0272330
DISO_to_DISOmapped_toimg Factor XI deficiency, type III C0272331
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanALG629929ALG6, alpha-1,3-glucosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0015523
HumanPMM25373phosphomannomutase 2
img OMIM, Score=1000, UMLKSK CUI: C0015523
HumanMPI4351mannose phosphate isomerase
img OMIM, Score=1000, UMLKSK CUI: C0015523
HumanF112160coagulation factor XI
img GENERIF, Score=923, Pubmed Id: 18388506, UMLKSK CUI: C0015523
img GENERIF, Score=1000, Pubmed Id: 16079124, UMLKSK CUI: C0015523
img GENERIF, Score=884, Pubmed Id: 18268095, UMLKSK CUI: C0015523
img GENERIF, Score=1000, Pubmed Id: 15870541, UMLKSK CUI: C0015523
img GENERIF, Score=1000, Pubmed Id: 17549289, UMLKSK CUI: C0015523
img GENERIF, Score=1000, Pubmed Id: 15842381, UMLKSK CUI: C0015523
img GENERIF, Score=1000, Pubmed Id: 16835901, UMLKSK CUI: C0015523
img GENERIF, Score=1000, Pubmed Id: 15226185, UMLKSK CUI: C0015523
img GAD, Score=1000, Pubmed Id: 11122101, UMLKSK CUI: C0015523
HumanF92158coagulation factor IX
img GENERIF, Score=1000, Pubmed Id: 15842381, UMLKSK CUI: C0015523
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0015523Factor XI Deficiency0self