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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:Common Ventricle
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Accession:DOID:9008306 term browser browse the term
Definition:Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two.
Synonyms:exact_synonym: Absence of Interventricular Septum;   Single Ventricle;   Univentricular Heart
 primary_id: MESH:D000080039
 alt_id: RDO:9001096


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Common Ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      congenital heart disease 1900
        heart septal defect 251
          ventricular septal defect 175
            Common Ventricle 1
Path 2
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        Congenital Abnormalities 14135
          Cardiovascular Abnormalities 2116
            congenital heart disease 1900
              heart septal defect 251
                ventricular septal defect 175
                  Common Ventricle 1
paths to the root