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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: ICD10CM:D69.4;   ORDO:438207
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Path 1
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  disease 15609
    Pathological Conditions, Signs and Symptoms 8245
      Pathologic Processes 5301
        Hemorrhage 238
          platelet-type bleeding disorder 19 0
Path 2
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  disease 15609
    disease of anatomical entity 14966
      Hemic and Lymphatic Diseases 1900
        hematopoietic system disease 1545
          blood coagulation disease 572
            hemorrhagic disease 560
              blood platelet disease 260
                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.