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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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Thrombocytopenia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 5		 OMIM
CTD
ClinVar		 PMID:9694803 PMID:15806161 PMID:17988997 PMID:18305557 PMID:21680795 More... NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        blood coagulation disease 959
          hemorrhagic disease 913
            blood platelet disease 369
              thrombocytopenia 282
                Thrombocytopenia 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          blood coagulation disease 959
            hemorrhagic disease 913
              blood platelet disease 369
                thrombocytopenia 282
                  Thrombocytopenia 5 1
paths to the root