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ONTOLOGY REPORT - ANNOTATIONS


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
Term Annotations click to browse term
  disease 15609
    Pathological Conditions, Signs and Symptoms 8245
      Pathologic Processes 5301
        Hemorrhage 238
          platelet-type bleeding disorder 19 0
Path 2
Term Annotations click to browse term
  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.