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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
 alt_id: RDO:0002748
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 chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
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G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chrNW_004955512:1,703,750...1,918,321
Ensembl chrNW_004955512:1,707,503...1,917,513
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13345
    syndrome 8007
      Kasabach-Merritt Syndrome 2
        Kaposiform Hemangioendothelioma 2
Path 2
Term Annotations click to browse term
  disease 13345
    disease of anatomical entity 13084
      Hemic and Lymphatic Diseases 2737
        hematopoietic system disease 2356
          blood coagulation disease 723
            hemorrhagic disease 694
              blood platelet disease 255
                thrombocytopenia 206
                  Kasabach-Merritt Syndrome 2
                    Kaposiform Hemangioendothelioma 2
paths to the root