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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:Brain Small Vessel Disease 3
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Accession:DOID:9007013 term browser browse the term
Definition:An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding.
Synonyms:exact_synonym: BSVD3
 primary_id: OMIM:618360
For additional species annotation, visit the Alliance of Genome Resources.


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Brain Small Vessel Disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colgalt1 collagen beta(1-O)galactosyltransferase 1 ISO OMIM NCBI chrNW_004936596:3,377,805...3,395,124 JBrowse link
G Niban3 niban apoptosis regulator 3 ISO ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 ClinVar NCBI chrNW_004936596:3,399,045...3,411,431 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12955
    disease of anatomical entity 12628
      cardiovascular system disease 3278
        vascular disease 2376
          cerebrovascular disease 746
            Cerebral Small Vessel Diseases 28
              Brain Small Vessel Disease 3 2
Path 2
Term Annotations click to browse term
  disease 12955
    disease of anatomical entity 12628
      nervous system disease 10533
        central nervous system disease 9221
          brain disease 8655
            cerebrovascular disease 746
              Cerebral Small Vessel Diseases 28
                Brain Small Vessel Disease 3 2
paths to the root