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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:Ventriculomegaly
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Accession:DOID:9009131 term browser browse the term
Definition:Dilatation of the ventricules of the brain.
Synonyms:exact_synonym: dilated ventricles;   enlarged cerebral ventricles;   enlarged ventricles;   enlarged ventricular system
For additional species annotation, visit the Alliance of Genome Resources.


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Ventriculomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora1 adenosine A1 receptor IDA RGD PMID:12151769 RGD:1625283 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Enlarged ventricular system ClinVar PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Enlarged ventricular system ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Enlarged ventricular system ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Ventriculomegaly 5
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                Ventriculomegaly 5
paths to the root