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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


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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 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:9536098 PMID:17068770 PMID:17576681 PMID:23350806 PMID:25741868 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		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 39 molecular ruler complex subunit IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
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 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...110,597,475
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...61,703,677
Ensembl chr17:61,637,258...61,703,677 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		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: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 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: KIDINS220-related condition | ClinVar Annotator: match by term: Ventriculomegaly and arthrogryposis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28934391 More... 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 19065
    Developmental Disease 14582
      Neurodevelopmental Disorders 6894
        Ventriculomegaly 16
          Megalencephaly-Polydactyly Syndrome 1
          Ventriculomegaly and Arthrogryposis 1
          ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              Neurodevelopmental Disorders 6894
                Ventriculomegaly 16
                  Megalencephaly-Polydactyly Syndrome 1
                  Ventriculomegaly and Arthrogryposis 1
                  ventriculomegaly - cystic kidney disease 1
paths to the root