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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 chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by OMIM:614483
ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
OMIM
ClinVar
PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25326635 PMID:25653287 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30315939 PMID:33527515 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    physical disorder 2971
      congenital nervous system abnormality 979
        microcephaly 873
          porencephaly 3
            Brain Small Vessel Disease 2 3
Path 2
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          monogenic disease 6660
            autosomal genetic disease 5814
              autosomal dominant disease 4101
                complex cortical dysplasia with other brain malformations 1167
                  Malformations of Cortical Development, Group I 1027
                    microcephaly 873
                      porencephaly 3
                        Brain Small Vessel Disease 2 3
paths to the root