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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 chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Kasabach-Merritt Syndrome 2
        Kaposiform Hemangioendothelioma 2
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3187
          blood coagulation disease 918
            hemorrhagic disease 873
              blood platelet disease 348
                thrombocytopenia 269
                  Kasabach-Merritt Syndrome 2
                    Kaposiform Hemangioendothelioma 2
paths to the root