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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:Ventricular Septal Defect 2
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Accession:DOID:9007054 term browser browse the term
Synonyms:exact_synonym: VSD2
 xref: MIM:614431;   MONDO:0013748

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Ventricular Septal Defect 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chrNW_004624753:14,630,842...14,633,245
Ensembl chrNW_004624753:14,630,827...14,632,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    physical disorder 4807
      congenital heart disease 1321
        heart septal defect 205
          ventricular septal defect 148
            Ventricular Septal Defect 2 1
Path 2
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        Congenital Abnormalities 7084
          Cardiovascular Abnormalities 1504
            congenital heart disease 1321
              heart septal defect 205
                ventricular septal defect 148
                  Ventricular Septal Defect 2 1
paths to the root