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 aortic arch morphology (HP:0012303)

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

..Starting node
..Right aortic arch (HP:0012020)

Term ID:

12020

Name:

Right aortic arch

Synonym:

Right-sided aortic arch

Definition:

Aorta descends on right instead of on the left.

Comments:

Reference:

HP:0012020

Genes and Diseases:

Child Nodes:

........

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

........

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

........

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

........

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

Sister Nodes:

Abnormal branching pattern of left aortic arch (HP:0031055)

Cervical aortic arch (HP:0011588)

Common origin of the right brachiocephalic artery and left common carotid artery (HP:0011589)

Double aortic arch (HP:0011590)

Vascular ring (HP:0010775)

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:0012020	HP:0012020	Right aortic arch	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.	161
HP:0012020	HP:0012020	Right aortic arch	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0012020	HP:0012020	Right aortic arch	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0012020	HP:0012020	Right aortic arch	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0012020	HP:0012020	Right aortic arch	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0012020	HP:0012020	Right aortic arch	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0012020	HP:0012020	Right aortic arch	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0012020	HP:0012020	Right aortic arch	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0012020	HP:0012020	Right aortic arch	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0012020	HP:0012020	Right aortic arch	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012020	HP:0012020	Right aortic arch	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0012020	HP:0012020	Right aortic arch	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0012020	HP:0012020	Right aortic arch	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0012020	HP:0012020	Right aortic arch	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0012020	HP:0012020	Right aortic arch	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0012020	HP:0012020	Right aortic arch	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0012020	HP:0012020	Right aortic arch	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0012020	HP:0012020	Right aortic arch	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0012020	HP:0012020	Right aortic arch	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0012020	HP:0012020	Right aortic arch	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0012020	HP:0012020	Right aortic arch	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0012020	HP:0012020	Right aortic arch	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0012020	HP:0012020	Right aortic arch	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012020	HP:0012020	Right aortic arch	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0012020	HP:0012020	Right aortic arch	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0012020	HP:0011598	Right aortic arch with retroesophageal left subclavian artery	1	CL E G H
HP:0012020	HP:0011597	Right aortic arch with left descending aorta and left ductus arteriosus	1	CL E G H
HP:0012020	HP:0011594	Right aortic arch with retroesophageal diverticulum of Kommerell	1	CL E G H
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0012020	HP:0002627	Right aortic arch with mirror image branching	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32

Genes (24) :ACVR2B CFAP53 CHD7 CIROP CRELD1 DGCR2 DGCR6 DGCR8 DNAH1 DNAH9 ESS2 FLT4 GDF1 MMP21 NKX2-6 PKD1L1 PLXND1 SF3B2 STRA6 TBX1 TMEM260 TTC26 WDR26 WT1

Diseases (20) :OMIM:613751 OMIM:614779 OMIM:214800 OMIM:619702 OMIM:606217 OMIM:192430 OMIM:617577 OMIM:618300 OMIM:618780 OMIM:613854 OMIM:616749 ORPHA:3384 OMIM:617205 OMIM:164210 OMIM:601186 OMIM:188400 OMIM:617478 OMIM:619534 ORPHA:513456 OMIM:608978

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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