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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:Vein of Galen Aneurysm
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Accession:DOID:9003879 term browser browse the term
Synonyms:exact_synonym: Ectasia or varix of the vein of Galen;   Galen vein aneurysm;   Galenic arteriovenous malformation;   VGAM;   Vein of Galen aneurysm malformation
 primary_id: MESH:C536535
 xref: GARD:5467;   MONDO:0015196;   ORDO:1053

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Vein of Galen Aneurysm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chrNW_004955407:35,641,560...35,728,105
Ensembl chrNW_004955407:35,641,560...35,728,105 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520 		JBrowse link
G Kel Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004955494:668,188...688,036
Ensembl chrNW_004955494:668,798...688,079 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004955434:6,420,850...6,592,797
Ensembl chrNW_004955434:6,420,854...6,594,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      nervous system disease 12348
        Nervous System Malformations 2335
          Central Nervous System Vascular Malformations 51
            arteriovenous malformations of the brain 32
              Vein of Galen Malformations 6
                Vein of Galen Aneurysm 6
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12608
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11871
        Congenital Abnormalities 7228
          Cardiovascular Abnormalities 1518
            Vascular Malformations 120
              Central Nervous System Vascular Malformations 51
                arteriovenous malformations of the brain 32
                  Vein of Galen Malformations 6
                    Vein of Galen Aneurysm 6
paths to the root