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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 chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735 		JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr21:111,819,230...111,846,966
Ensembl chr21:111,819,368...111,840,142 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		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 chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        Nervous System Malformations 2427
          Central Nervous System Vascular Malformations 52
            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 15416
    Developmental Disease 13504
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        Congenital Abnormalities 7666
          Cardiovascular Abnormalities 1575
            Vascular Malformations 122
              Central Nervous System Vascular Malformations 52
                arteriovenous malformations of the brain 33
                  Vein of Galen Malformations 6
                    Vein of Galen Aneurysm 6
paths to the root