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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 14090
    Pathological Conditions, Signs and Symptoms 10993
      Pathologic Processes 6815
        Hemorrhage 261
          platelet-type bleeding disorder 19 0
Path 2
Term Annotations click to browse term
  disease 14090
    Developmental Disease 12292
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11533
        genetic disease 11224
          monogenic disease 9420
            autosomal genetic disease 8753
              autosomal recessive disease 6179
                platelet-type bleeding disorder 19 0
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