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dextro-looped transposition of the great arteries 3
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.
Uniprot Description An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle.
Disease Ontology Description A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13.
Mondo Term and Equivalent IDs
MONDO:0013463: dextro-looped transposition of the great arteries 3
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060772
OMIM:613854
UMLS:C3151221
MONDO:0013463
High level summary of knowledge for a disease, including descriptions and datasource references.