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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:mast cell neoplasm
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Accession:DOID:3664 term browser browse the term
Definition:A hematologic cancer that has_material_basis_in mast cells. (DO)
Synonyms:exact_synonym: EFO:0009000;   mast cell proliferative disease;   mast cell tumor;   mastocytoma
 xref: EFO:0009000;   NCI:C129077;   NCI:C21632;   NCI:C9295
For additional species annotation, visit the Alliance of Genome Resources.



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mast-cell leukemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mast cell leukemia ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19060
    disease of cellular proliferation 7788
      cancer 5630
        cell type cancer 3842
          mast cell neoplasm 1
            extracutaneous mastocytoma + 0
            indolent systemic mastocytosis 0
            intra-abdominal lymph node mast cell malignancy 0
            mast-cell leukemia 1
            mast-cell sarcoma 0
Path 2
Term Annotations click to browse term
  disease 19060
    disease of anatomical entity 18398
      Hemic and Lymphatic Diseases 4041
        hematopoietic system disease 3529
          Hematologic Neoplasms 1090
            hematologic cancer 1090
              mast cell neoplasm 1
                extracutaneous mastocytoma + 0
                indolent systemic mastocytosis 0
                intra-abdominal lymph node mast cell malignancy 0
                mast-cell leukemia 1
                mast-cell sarcoma 0
paths to the root