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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:CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
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Accession:DOID:9004582 term browser browse the term
Definition:This is a disease characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect.
Synonyms:exact_synonym: CHTD8;   multiple types of congenital heart defects-8 with or without heterotaxy
 broad_synonym: SMAD2-RELATED CONDITION
 primary_id: OMIM:619657


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CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 8, with or without heterotaxy OMIM
ClinVar		 PMID:23665959 PMID:25741868 PMID:28492532 PMID:30157302 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      congenital heart disease 1346
        Congenital Heart Defects, Multiple Types 26
          CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Cardiovascular Abnormalities 1545
            congenital heart disease 1346
              Congenital Heart Defects, Multiple Types 26
                CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY 1
paths to the root