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Term:platelet-type bleeding disorder 20
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Accession:DOID:0111055 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
Synonyms:exact_synonym: BDPLT20;   autosomal dominant thrombocytopenia with platelet secretion defect
 primary_id: OMIM:616913
 alt_id: RDO:9000353
 xref: ORDO:466806
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  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Hemorrhage 234
          platelet-type bleeding disorder 20 0
Path 2
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  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 20 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.