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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:Thrombocytosis, Benign Familial Microcytic
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Accession:DOID:9000940 term browser browse the term
Synonyms:primary_id: MESH:C566596;   RDO:0014909


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Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic ClinVar PMID:8073287 PMID:11133753 PMID:16199547 PMID:16470591 PMID:18090929 More... NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      hematopoietic system disease 3344
        blood coagulation disease 958
          hemorrhagic disease 912
            blood platelet disease 368
              thrombocytosis 37
                Thrombocytosis, Benign Familial Microcytic 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        hematopoietic system disease 3344
          bone marrow disease 776
            Bone Marrow Neoplasms 508
              bone marrow cancer 508
                myeloid neoplasm 325
                  thrombocytosis 37
                    Thrombocytosis, Benign Familial Microcytic 1
paths to the root