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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:This disease involves dilatation of the ventricles of the brain.
Synonyms:exact_synonym: dilated ventricles;   enlarged cerebral ventricles;   enlarged ventricles;   enlarged ventricular system
 narrow_synonym: PROGRESSIVE VENTRICULOMEGALY
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 chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
JBrowse link
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Progressive ventriculomegaly ClinVar PMID:25741868 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr17:61,637,258...61,703,664
Ensembl chr17:61,637,258...61,703,677
JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease OMIM
ClinVar
PMID:25557779 PMID:25557780 PMID:25741868 PMID:26925547 PMID:27004616 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link
Ventriculomegaly and Arthrogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: VENTRICULOMEGALY AND ARTHROGRYPOSIS OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28934391 PMID:32909676 PMID:33205811 NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    Developmental Disease 12578
      Neurodevelopmental Disorders 5956
        Ventriculomegaly 15
          Ventriculomegaly and Arthrogryposis 1
          ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        central nervous system disease 11044
          brain disease 10315
            disease of mental health 7310
              Neurodevelopmental Disorders 5956
                Ventriculomegaly 15
                  Ventriculomegaly and Arthrogryposis 1
                  ventriculomegaly - cystic kidney disease 1
paths to the root