Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Double aortic arch (HP:0011590)

Term ID:

11590

Name:

Double aortic arch

Synonym:

Definition:

A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).

Comments:

Reference:

HP:0011590

Genes and Diseases:

Child Nodes:

........

Balanced double aortic arch (HP:0031562)

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)

Right aortic arch (HP:0012020)

Vascular ring (HP:0010775)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011590	HP:0011590	Double aortic arch	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011590	HP:0011590	Double aortic arch	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0011590	HP:0011590	Double aortic arch	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0011590	HP:0011590	Double aortic arch	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0011590	HP:0011590	Double aortic arch	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0011590	HP:0011590	Double aortic arch	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7	90
HP:0011590	HP:0011590	Double aortic arch	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	32
HP:0011590	HP:0031562	Balanced double aortic arch	1	CL E G H

Genes (7) :CIROP DGCR2 DGCR6 DGCR8 ESS2 FLT4 TBX1

Diseases (3) :OMIM:619702 OMIM:192430 OMIM:618780

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen