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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:Central Nervous System Venous Angioma
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Accession:DOID:9006290 term browser browse the term
Definition:A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding.
Synonyms:exact_synonym: Cerebral Venous Angioma;   Cerebral Venous Angiomas;   Intracranial Venous Angioma;   Intracranial Venous Angiomas
 primary_id: MESH:D020787;   RDO:0007430
For additional species annotation, visit the Alliance of Genome Resources.


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Central Nervous System Venous Angioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702
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G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    disease of anatomical entity 12210
      nervous system disease 10128
        Nervous System Malformations 1420
          Central Nervous System Vascular Malformations 34
            Central Nervous System Venous Angioma 2
Path 2
Term Annotations click to browse term
  disease 12530
    Developmental Disease 9323
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7873
        Congenital Abnormalities 4757
          Cardiovascular Abnormalities 1026
            Vascular Malformations 70
              Central Nervous System Vascular Malformations 34
                Central Nervous System Venous Angioma 2
paths to the root