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atrioventricular septal defect 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.
Uniprot Description A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
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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:600309
UMLS:C3275750
MONDO:0010859
High level summary of knowledge for a disease, including descriptions and datasource references.