Human Phenotype Ontology 
Grandparent Node:
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Abnormal morphology of the great vessels (HP:0030962)help
Grandparent Node:
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Abnormal systemic arterial morphology (HP:0011004)help
Parent Node:
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Abnormal aortic morphology (HP:0001679)help
..Starting node
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Overriding aorta (HP:0002623)help
Term ID: 2623
Name: Overriding aorta
Synonym: Dextroposition of aorta; Overriding aortic valve
Definition: An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
Comments:
Reference: HP:0002623
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal aortic arch morphology (HP:0012303) help
..expandAbnormal ascending aorta morphology (HP:0031784) help
..expandAortic aneurysm (HP:0004942) help
..expandAortic atherosclerotic lesion (HP:0012397) help
..expandAortic dissection (HP:0002647) help
..expandAortic rupture (HP:0031649) help
..expandAortic tortuosity (HP:0006687) help
..expandAorto-ventricular tunnel (HP:0011627) help
..expandAortopulmonary collateral arteries (HP:0031834) help
..expandCalcification of the aorta (HP:0004963) help
..expandCoarctation of aorta (HP:0001680) help
..expandCoated aorta (HP:0025494) help
..expandDescending aorta hypoplasia (HP:0025495) help
..expandMucoid extracellular matrix accumulation (HP:0200146) help
..expandPenetrating aortic ulcer (HP:0031648) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002623HP:0002623Overriding aorta0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0002623HP:0002623Overriding aorta0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0002623HP:0002623Overriding aorta0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0002623HP:0002623Overriding aorta0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0002623HP:0002623Overriding aorta0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002623HP:0002623Overriding aorta0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002623HP:0002623Overriding aorta0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002623HP:0002623Overriding aorta0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0002623HP:0002623Overriding aorta0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002623HP:0002623Overriding aorta0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002623HP:0002623Overriding aorta0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0002623HP:0002623Overriding aorta0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0002623HP:0002623Overriding aorta0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0002623HP:0002623Overriding aorta0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0002623HP:0002623Overriding aorta0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0002623HP:0002623Overriding aorta0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002623HP:0002623Overriding aorta0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional


Genes (28) :BAZ1B BCL7B BUD23 CHD7 CLIP2 COX7B DNAJC30 EIF4H ELN FGFR2 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HCCS LIMK1 METTL27 MLXIPL NCF1 NDUFB11 NEK9 RAI1 RFC2 STX1A TBL2 TGDS TMEM270 VPS37D

Diseases (7) :ORPHA:904 OMIM:214800 OMIM:309801 OMIM:101200 OMIM:617022 ORPHA:477817 OMIM:616145
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.