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pulmonary atresia with ventricular septal defect
Disease Summary
Associated Targets ()
Mondo Description Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.
Mondo Term and Equivalent IDs
MONDO:0008343: pulmonary atresia with ventricular septal defect
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0004588
MESH:C562833
NCIT:C99033
OMIM:178370
Orphanet:1207
SCTID:253591008
UMLS:C0344976
MONDO:0008343
High level summary of knowledge for a disease, including descriptions and datasource references.