Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal branching pattern of the aortic arch (HP:0011587)

Parent Node:
Right aortic arch (HP:0012020)

..Starting node
..Right aortic arch with mirror image branching (HP:0002627)

Term ID:

2627

Name:

Right aortic arch with mirror image branching

Synonym:

Definition:

The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.

Comments:

Reference:

HP:0002627

Genes and Diseases:

Child Nodes:

Sister Nodes:

Right aortic arch with left descending aorta and left ductus arteriosus (HP:0011597)

Right aortic arch with retroesophageal diverticulum of Kommerell (HP:0011594)

Right aortic arch with retroesophageal left subclavian artery (HP:0011598)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0002627	HP:0002627	Right aortic arch with mirror image branching	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32

Genes (7) :CRELD1 DGCR2 DGCR6 DGCR8 ESS2 STRA6 TBX1

Diseases (4) :OMIM:606217 OMIM:192430 OMIM:601186 OMIM:188400

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

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