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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 chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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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 chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        Nervous System Malformations 1050
          Central Nervous System Vascular Malformations 37
            Central Nervous System Venous Angioma 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Cardiovascular Abnormalities 1114
            Vascular Malformations 72
              Central Nervous System Vascular Malformations 37
                Central Nervous System Venous Angioma 2
paths to the root