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ONTOLOGY REPORT - ANNOTATIONS


Term:factor XII deficiency
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Accession:DOID:2231 term browser browse the term
Definition:An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.
Synonyms:exact_synonym: Coagulation Factor 12 Deficiency;   F12 DEFICIENCY;   Factor 12 Deficiencies;   Factor 12 Deficiency;   Factor XII Deficiencies;   Factor XII deficiency disease;   HAF DEFICIENCY;   Hageman Factor Deficiency;   Hageman Trait;   deficiency, Hageman
 primary_id: MESH:D005175
 alt_id: OMIM:234000;   RDO:0005566
 xref: GARD:6558;   NCI:C131740
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factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:1601107
RGD:7240710
RGD:11041769
RGD:11041772
RGD:11041805
RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      hematopoietic system disease 1451
        hemorrhagic disease 456
          factor XII deficiency 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                factor XII deficiency 2
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