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hypoplastic left heart syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.
Uniprot Description A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.
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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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614435
UMLS:C3280795
MONDO:0013752
High level summary of knowledge for a disease, including descriptions and datasource references.