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ONTOLOGY REPORT - ANNOTATIONS


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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Path 1
Term Annotations click to browse term
  disease 15503
    Pathological Conditions, Signs and Symptoms 8038
      Pathologic Processes 5204
        Hemorrhage 237
          platelet-type bleeding disorder 20 0
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      Hemic and Lymphatic Diseases 1748
        hematopoietic system disease 1469
          blood coagulation disease 504
            hemorrhagic disease 492
              blood platelet disease 193
                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.