ONTOLOGY REPORT - ANNOTATIONS


Term:platelet-type bleeding disorder 17
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Accession:DOID:0111049 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material basis in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: BDPLT17;   hereditary thrombasthenia-thrombocytopenia
 primary_id: MESH:C566060
 alt_id: DOID:9002447;   OMIM:187900;   RDO:0014532;   RDO:9004872
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platelet-type bleeding disorder 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      hematopoietic system disease 1374
        blood coagulation disease 392
          inherited blood coagulation disease 99
            platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      Hemic and Lymphatic Diseases 1590
        hematopoietic system disease 1374
          blood coagulation disease 392
            hemorrhagic disease 378
              blood platelet disease 193
                thrombocytopenia 129
                  platelet-type bleeding disorder 17 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.