Term ID:
31348
Name:
Dextrotransposition of the great arteries
Synonym:
D-loop transposition of the great arteries; D-TGA
Definition:
A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.
Comments:
Reference:
HP:0031348
Genes and Diseases: Child Nodes: Sister Nodes: ..Levotransposition of the great arteries (HP:0031349) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 ACVR2B CL E G H 93 174 OMIM:613751 Heterotaxy, visceral, 4, autosomal 161 HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 CIROP CL E G H 100128908 53647 OMIM:619702 HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 NODAL CL E G H 4838 7865 OMIM:270100 Heterotaxy, visceral, 5 45 HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 SMAD2 CL E G H 4087 6768 OMIM:619657 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 7 HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 SMG9 CL E G H 56006 25763 OMIM:619995 2 HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 ZIC3 CL E G H 7547 12874 OMIM:306955 Heterotaxy, visceral, 1, X-linked 39 HP:0031348 HP:0031348 Dextrotransposition of the great arteries 0 ZNF462 CL E G H 58499 21684 OMIM:618619 WEISS-KRUSZKA SYNDROME; WSKA 4
Genes (7) :ACVR2B CIROP NODAL SMAD2 SMG9 ZIC3 ZNF462 Diseases (7) :OMIM:613751 OMIM:619702 OMIM:270100 OMIM:619657 OMIM:619995 OMIM:306955 OMIM:618619
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.