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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:cerebellar angioblastoma
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Accession:DOID:6500 term browser browse the term
Definition:A hemangioma of the cerebellum that tends to be associated with von Hippel-Lindau disease. (Merriam-Webster)
Synonyms:exact_synonym: cerebellar hemangioblastoma;   hemangioblastoma of cerebellum
 narrow_synonym: sporadic cerebellar hemangioblastoma
 primary_id: RDO:9001250
 xref: NCI:C5146
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of cellular proliferation 5499
      cancer 4019
        cell type cancer 2993
          carcinoma 2001
            cerebellar angioblastoma 1
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
                      cerebellar angioblastoma 1
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.