Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 OMIM
ClinVar
PMID:30412317 NCBI chr16:20,039,969...20,052,277
Ensembl chr16:20,039,969...20,052,276
JBrowse link
G Niban3 niban apoptosis regulator 3 ISO ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 ClinVar NCBI chr16:20,027,100...20,038,720
Ensembl chr16:20,027,348...20,038,716
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      cardiovascular system disease 4489
        vascular disease 3412
          cerebrovascular disease 820
            Cerebral Small Vessel Diseases 37
              Brain Small Vessel Disease 3 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            cerebrovascular disease 820
              Cerebral Small Vessel Diseases 37
                Brain Small Vessel Disease 3 2
paths to the root