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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
UMLS:C3151221: