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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:hemangioblastoma
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Accession:DOID:5241 term browser browse the term
Definition:A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)
Synonyms:exact_synonym: Multiple Hemangioblastoma;   capillary hemangioblastoma;   hemangioblastomas;   multiple hemangioblastomas
 primary_id: MESH:D018325
 alt_id: RDO:0007184
 xref: GARD:8232;   GARD:8522;   NCI:C3801
For additional species annotation, visit the Alliance of Genome Resources.


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hemangioblastoma term browser
Symbol Object Name Qualifiers 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 chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers 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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 ISO OMIM NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr25:36,859,047...36,904,057
Ensembl chr25:36,872,636...36,904,056
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO OMIM NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of cellular proliferation 5499
      benign neoplasm 906
        cell type benign neoplasm 748
          hemangioma 83
            hemangioblastoma 7
              brain stem angioblastoma 0
              cerebellar angioblastoma 1
              retinal hemangioblastoma 0
              von Hippel-Lindau disease 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
                    hemangioblastoma 7
                      brain stem angioblastoma 0
                      cerebellar angioblastoma 1
                      retinal hemangioblastoma 0
                      von Hippel-Lindau disease 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.