You are using an outdated browser. Please upgrade your browser to improve your experience.
congenital heart defects, multiple types, 4
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.
Uniprot Description A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.
Download Data for congenital heart defects, multiple types, 4
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615779
UMLS:C4014310
MONDO:0014344
High level summary of knowledge for a disease, including descriptions and datasource references.