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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 2
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Accession:DOID:9007357 term browser browse the term
Synonyms:exact_synonym: BSVD2;   POREN2;   porencephaly 2
 related_synonym: ACQUIRED PORENCEPHALY
 primary_id: OMIM:614483
 alt_id: RDO:9000653
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Brain Small Vessel Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO OMIM NCBI chrNW_004936472:2,270,836...2,416,324 JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chrNW_004936474:740,582...763,294 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12955
    physical disorder 2904
      congenital nervous system abnormality 1009
        microcephaly 884
          porencephaly 3
            Brain Small Vessel Disease 2 3
Path 2
Term Annotations click to browse term
  disease 12955
    Developmental Disease 9823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8541
        genetic disease 8099
          monogenic disease 6589
            autosomal genetic disease 5850
              autosomal dominant disease 4155
                complex cortical dysplasia with other brain malformations 1165
                  Malformations of Cortical Development, Group I 1032
                    microcephaly 884
                      porencephaly 3
                        Brain Small Vessel Disease 2 3
paths to the root