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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: mast cell proliferative disease;   mast cell tumor;   mastocytoma
 xref: 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 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of cellular proliferation 6946
      cancer 4896
        cell type cancer 3395
          mast cell neoplasm 1
            cutaneous solitary mastocytoma 0
            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 17150
    disease of anatomical entity 16494
      Hemic and Lymphatic Diseases 2220
        hematopoietic system disease 1799
          Hematologic Neoplasms 856
            hematologic cancer 856
              mast cell neoplasm 1
                cutaneous solitary mastocytoma 0
                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