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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  disease 14823
    disease of anatomical entity 13997
      hematopoietic system disease 1365
        hemorrhagic disease 376
          alpha-2-plasmin inhibitor deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                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.