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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:Capillary Hemangioma, Infantile
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Accession:DOID:9008660 term browser browse the term
Synonyms:exact_synonym: HCI;   Hemangioma, hereditary capillary
 related_synonym: Hemangioma, capillary infantile, susceptibility to
 primary_id: MESH:C535860
 alt_id: OMIM:602089;   RDO:0001200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Capillary Hemangioma, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:18931684 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987, PMID:25741868, PMID:28492532 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
ClinVar Annotator: match by OMIM:602089
OMIM
ClinVar
PMID:11807987, PMID:18931684, PMID:24033266, PMID:24728327 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Hereditary Neoplastic Syndromes 815
        Capillary Hemangioma, Infantile 5
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Neoplasms 233
              skin benign neoplasm 53
                skin hemangioma 17
                  capillary hemangioma 15
                    Capillary Hemangioma, Infantile 5
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.