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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.


GViewer not supported for chinchilla.
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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_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273
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_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899
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_004955424:15,820,734...16,034,278
Ensembl chrNW_004955424:15,824,435...16,033,946
JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056
JBrowse link
G Kdr kinase insert domain receptor ISO OMIM NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
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_004955561:1,573,525...1,578,295 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_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922
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_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO OMIM NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004955403:43,821,978...43,848,403
Ensembl chrNW_004955403:43,821,296...43,848,399
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO OMIM NCBI chrNW_004955561:1,573,525...1,578,295 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11815
    sensory system disease 4549
      skin disease 2372
        Skin Neoplasms 213
          skin benign neoplasm 49
            skin hemangioma 16
              angiokeratoma + 2
              angioma serpiginosum + 0
              capillary hemangioma + 14
              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 11815
    disease of anatomical entity 11368
      nervous system disease 9308
        sensory system disease 4549
          skin disease 2372
            Skin Neoplasms 213
              skin benign neoplasm 49
                skin hemangioma 16
                  angiokeratoma + 2
                  angioma serpiginosum + 0
                  capillary hemangioma + 14
                  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.