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ONTOLOGY REPORT - ANNOTATIONS


Term:factor XI deficiency
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Accession:DOID:2229 term browser browse the term
Definition: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.
Synonyms:exact_synonym: F11 DEFICIENCY;   Factor XI Deficiencies;   PTA DEFICIENCY;   Rosenthal Syndrome;   Rosenthal Syndromes;   Rosenthal's Syndrome;   Rosenthal's disease;   Rosenthals Syndrome;   congenital factor XI deficiency;   hemophilia C;   hereditary factor XI deficiency disease;   plasma thromboplastin antecedent deficiency
 primary_id: MESH:D005173
 alt_id: OMIA:000363;   OMIM:612416;   RDO:0003365
 xref: GARD:9670;   NCI:C84705
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factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:1598923
RGD:7240710
RGD:8554872
RGD:11041741
RGD:11041742

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Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      hematopoietic system disease 1426
        hemorrhagic disease 430
          factor XI deficiency 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              factor XI deficiency 1
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