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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:congenital factor XII deficiency
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Accession:EFO:MONDO:0009315 term browser browse the term
Definition:Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
Synonyms:exact_synonym: Hageman Factor deficiency;   congenital Hageman factor deficiency;   deficiency, Hageman;   factor XII deficiency disease
 related_synonym: F12 deficiency;   Haf deficiency;   coagulation factor 12 deficiency;   factor 12 deficiency;   factor XII deficiency
 alt_id: MONDO:0009315
 xref: DOID:2231;   GARD:6558;   ICD9:286.3;   MESH:D005175;   NANDO:2200680;   NCI:C131740;   NORD:1119;   OMIM:234000;   ORDO:330;   SCTID:46981006;   UMLS:C0015526
 external_ontology: disease_arises_from_feature EFO:HP:0004841
 see_also: https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency xsd:anyURI {source="GARD:0006558"}


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            autosomal genetic disease 0
              congenital factor XII deficiency 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            blood coagulation disease 0
              inherited blood coagulation disorder 0
                congenital factor XII deficiency 0
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