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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:Hemangioendothelioma
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Accession:DOID:9000293 term browser browse the term
Definition:A neoplasm derived from blood vessels, characterized by numerous prominent endothelial cells that occur singly, in aggregates, and as the lining of congeries of vascular tubes or channels. Hemangioendotheliomas are relatively rare and are of intermediate malignancy (between benign hemangiomas and conventional angiosarcomas). They affect men and women about equally and rarely develop in childhood. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1866)
Synonyms:exact_synonym: Hemangio Endothelioma;   Hemangio-Endotheliomas;   Hemangioendotheliomas;   Vascular Endothelioma;   Vascular Endotheliomas
 primary_id: MESH:D006390;   RDO:0000320


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Kaposiform Hemangioendothelioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        cell type benign neoplasm 1967
          hemangioma 118
            Hemangioendothelioma 2
              Epithelioid Hemangioendothelioma 0
              Kaposiform Hemangioendothelioma 2
              Reactive Angioendotheliomatosis 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Neoplasms by Site 7370
        organ system benign neoplasm 1297
          cardiovascular organ benign neoplasm 133
            hemangioma 118
              Hemangioendothelioma 2
                Epithelioid Hemangioendothelioma 0
                Kaposiform Hemangioendothelioma 2
                Reactive Angioendotheliomatosis 0
paths to the root