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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:myeloproliferative disorder with eosinophilia
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Accession:DOID:0111344 term browser browse the term
Definition:A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. (DO)
Synonyms:exact_synonym: Clonal Eosinophilia with Chronic Myeloproliferative Disorder;   EMP;   Eosinophils, Malignant Proliferation of;   MPE;   PDGFRB-associated chronic eosinophilic leukemia;   atypical Philadelphia-negative chronic myeloid leukemia;   chronic myeloproliferative disorder with eosinophilia;   primary eosinophilia with chronic myeloproliferative disorder
 primary_id: MESH:C565054;   MESH:C580365
 alt_id: OMIM:131440

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myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia OMIM
ClinVar		 PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More... NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      hypereosinophilic syndrome 24
        myeloproliferative disorder with eosinophilia 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Hemic and Lymphatic Diseases 3387
        hematopoietic system disease 2941
          Hematologic Neoplasms 923
            Bone Marrow Neoplasms 443
              bone marrow cancer 443
                myeloid neoplasm 268
                  myelodysplastic/myeloproliferative neoplasm 29
                    chronic myelomonocytic leukemia 8
                      myeloproliferative disorder with eosinophilia 1
paths to the root