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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:skin hemangioma
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Accession:DOID:471 term browser browse the term
Synonyms:exact_synonym: Angioma of the skin;   Angiomatous naevus of skin
 primary_id: RDO:9004238
 xref: NCI:C4905
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
angiokeratoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chrNW_004936718:31,946...55,822 JBrowse link
capillary hemangioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chrNW_004936550:2,983,172...3,032,222 JBrowse link
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 chrNW_004936491:13,288,986...13,516,878 JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chrNW_004936739:240,572...281,925 JBrowse link
G Kdr kinase insert domain receptor ISO OMIM NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004936474:24,205,878...24,236,611 JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
hemangioblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936470:16,051,291...16,102,563 JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chrNW_004936471:3,423,792...3,527,089 JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004936508:5,855,748...5,938,879 JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004936555:4,249,821...4,271,379 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO OMIM NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11943
    sensory system disease 4609
      skin disease 2414
        Skin Neoplasms 215
          skin benign neoplasm 48
            skin hemangioma 15
              angiokeratoma + 2
              angioma serpiginosum + 0
              capillary hemangioma + 13
              hemangioma of subcutaneous tissue 0
              scrotal angioma 0
              senile angioma 0
              skin epithelioid hemangioma 0
              verrucous keratotic hemangioma 0
Path 2
Term Annotations click to browse term
  disease 11943
    disease of anatomical entity 11504
      nervous system disease 9435
        sensory system disease 4609
          skin disease 2414
            Skin Neoplasms 215
              skin benign neoplasm 48
                skin hemangioma 15
                  angiokeratoma + 2
                  angioma serpiginosum + 0
                  capillary hemangioma + 13
                  hemangioma of subcutaneous tissue 0
                  scrotal angioma 0
                  senile angioma 0
                  skin epithelioid hemangioma 0
                  verrucous keratotic hemangioma 0
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.