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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 6
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Accession:DOID:9005009 term browser browse the term
Definition:An autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. (OMIM)
Synonyms:exact_synonym: THC6;   autosomal dominant thrombocytopenia-6
 primary_id: OMIM:616937


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Thrombocytopenia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia 6 OMIM
ClinVar
PMID:25741868 PMID:26936507 PMID:32581362 NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      hematopoietic system disease 2937
        blood coagulation disease 845
          hemorrhagic disease 801
            blood platelet disease 308
              thrombocytopenia 237
                Thrombocytopenia 6 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      Hemic and Lymphatic Diseases 3383
        hematopoietic system disease 2937
          blood coagulation disease 845
            hemorrhagic disease 801
              blood platelet disease 308
                thrombocytopenia 237
                  Thrombocytopenia 6 1
paths to the root