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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 OMIM NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165
JBrowse link
G KDR kinase insert domain receptor ISO OMIM NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of cellular proliferation 5499
      Hereditary Neoplastic Syndromes 764
        Capillary Hemangioma, Infantile 5
Path 2
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        sensory system disease 4836
          skin disease 2530
            Skin Neoplasms 238
              skin benign neoplasm 67
                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.