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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chr 1:235,165,775...235,347,986
Ensembl chr 1:235,166,718...235,347,937
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Neoplasms by Histologic Type 3728
        cell type benign neoplasm 784
          hemangioma 84
            Hemangioendothelioma 2
              Epithelioid Hemangioendothelioma 0
              Kaposiform Hemangioendothelioma 2
              Reactive Angioendotheliomatosis 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Neoplasms by Site 5282
        organ system benign neoplasm 453
          cardiovascular organ benign neoplasm 91
            hemangioma 84
              Hemangioendothelioma 2
                Epithelioid Hemangioendothelioma 0
                Kaposiform Hemangioendothelioma 2
                Reactive Angioendotheliomatosis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.