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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


show annotations for term's descendants           Sort by:
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 chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
G LOC100989368 Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:134,897,567...135,237,214
Ensembl chr 7:147,423,103...147,443,895
Ensembl chr 7:147,423,103...147,443,895 		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 chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      nervous system disease 13585
        Nervous System Malformations 2449
          Central Nervous System Vascular Malformations 53
            arteriovenous malformations of the brain 33
              Vein of Galen Malformations 6
                Vein of Galen Aneurysm 6
Path 2
Term Annotations click to browse term
  disease 15833
    Developmental Disease 13856
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12944
        Congenital Abnormalities 7812
          Cardiovascular Abnormalities 1599
            Vascular Malformations 124
              Central Nervous System Vascular Malformations 53
                arteriovenous malformations of the brain 33
                  Vein of Galen Malformations 6
                    Vein of Galen Aneurysm 6
paths to the root