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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:myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
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Accession:DOID:0080164 term browser browse the term
Definition:A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. (DO)
Synonyms:exact_synonym: Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2;   Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms
 xref: NCI:C84270



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        organ system cancer 5237
          hematologic cancer 1044
            bone marrow cancer 508
              myeloid neoplasm 325
                myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 0
                  myeloid and lymphoid neoplasms associated with FGFR1 abnormalities 0
                  myeloid and lymphoid neoplasms associated with PDGFRA rearrangement 0
                  myeloid and lymphoid neoplasms associated with PDGFRB rearrangement 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          Hematologic Neoplasms 1044
            Bone Marrow Neoplasms 508
              bone marrow cancer 508
                myeloid neoplasm 325
                  myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 0
                    myeloid and lymphoid neoplasms associated with FGFR1 abnormalities 0
                    myeloid and lymphoid neoplasms associated with PDGFRA rearrangement 0
                    myeloid and lymphoid neoplasms associated with PDGFRB rearrangement 0
paths to the root