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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 chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252 		JBrowse link
G KEL Kell metallo-endopeptidase ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr16:6,396,724...6,645,221
Ensembl chr16:6,623,824...6,645,094 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15374
      nervous system disease 13501
        Nervous System Malformations 2448
          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 15753
    Developmental Disease 13754
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12833
        Congenital Abnormalities 7758
          Cardiovascular Abnormalities 1602
            Vascular Malformations 130
              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