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ONTOLOGY REPORT - ANNOTATIONS


Term:platelet-type bleeding disorder 11
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Accession:DOID:0111057 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material basis in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: BDPLT11;   GLYCOPROTEIN VI DEFICIENCY;   GP VI DEFICIENCY
 primary_id: OMIM:614201;   RDO:9000197
 xref: ORDO:98885
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platelet-type bleeding disorder 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp6 glycoprotein VI JBrowse link 1 72,994,977 73,064,639 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Hemorrhage 234
          platelet-type bleeding disorder 11 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1426
          blood coagulation disease 444
            hemorrhagic disease 430
              blood platelet disease 191
                platelet-type bleeding disorder 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.