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ONTOLOGY REPORT - ANNOTATIONS


Term:alpha-2-plasmin inhibitor deficiency
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Accession:DOID:0060601 term browser browse the term
Definition:A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO)
Synonyms:exact_synonym: Anti-Plasmin Deficiency, Congenital;   Antiplasmin deficiency, congenital;   antiplasmin deficiency;   plasmin inhibitor deficiency
 related_synonym: antiplasmin defiency
 primary_id: MESH:C537777
 alt_id: OMIM:262850;   RDO:0003676
 xref: ORDO:79
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alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf2 serpin family F member 2 JBrowse link 10 62,264,247 62,272,353 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      hematopoietic system disease 1425
        hemorrhagic disease 430
          alpha-2-plasmin inhibitor deficiency 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                alpha-2-plasmin inhibitor deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.