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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:platelet-type bleeding disorder 19
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Accession:DOID:0111048 term browser browse the term
Definition:A blood platelet 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
 xref: ICD10CM:D69.4;   ORDO:438207


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Path 1
Term Annotations click to browse term
  disease 15275
    Pathological Conditions, Signs and Symptoms 11809
      Pathologic Processes 7355
        Hemorrhage 276
          platelet-type bleeding disorder 19 0
Path 2
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13237
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12324
        genetic disease 11991
          monogenic disease 10030
            autosomal genetic disease 9259
              autosomal recessive disease 6456
                platelet-type bleeding disorder 19 0
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