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Term:platelet-type bleeding disorder 19
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Accession:DOID:0111048 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material basis in homozygous mutation in the PRKACG gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: BDPLT19;   severe autosomal recessive macrothrombocytopenia
 primary_id: OMIM:616176
 alt_id: RDO:9001379
 xref: ORDO:438207
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Path 1
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  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Hemorrhage 234
          platelet-type bleeding disorder 19 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 19 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.