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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:Kaposiform Hemangioendothelioma
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Accession:DOID:9001384 term browser browse the term
Synonyms:exact_synonym: Congenital cutaneous multifocal kaposiform hemangioendothelioma;   Kaposiform hemangio-endothelioma
 primary_id: MESH:C537007


show annotations for term's descendants           Sort by:
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 18976
    syndrome 10887
      Kasabach-Merritt Syndrome 2
        Kaposiform Hemangioendothelioma 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          blood coagulation disease 961
            hemorrhagic disease 915
              blood platelet disease 371
                thrombocytopenia 283
                  Kasabach-Merritt Syndrome 2
                    Kaposiform Hemangioendothelioma 2
paths to the root