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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:Thrombocytopenia 5
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Accession:DOID:9005805 term browser browse the term
Definition:An autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. (OMIM)
Synonyms:exact_synonym: THC5;   THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY;   THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5
 broad_synonym: ETV6-RELATED CONDITION
 primary_id: OMIM:616216


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      hematopoietic system disease 3187
        blood coagulation disease 918
          hemorrhagic disease 873
            blood platelet disease 348
              thrombocytopenia 269
                Thrombocytopenia 5 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3187
          blood coagulation disease 918
            hemorrhagic disease 873
              blood platelet disease 348
                thrombocytopenia 269
                  Thrombocytopenia 5 1
paths to the root