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

Term ID:

31055

Name:

Abnormal branching pattern of left aortic arch

Synonym:

Definition:

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).

Comments:

Reference:

HP:0031055

Genes and Diseases:

Child Nodes:

........

Left aortic arch with cervical origin of the right subclavian artery (HP:0011591)

........

Left aortic arch with isolated subclavian artery (HP:0011592)

........

Left aortic arch with retroesophageal diverticulum of Kommerell (HP:0011593)

........

Left aortic arch with retroesophageal right subclavian artery (HP:0011595)

........

Left aortic arch with right descending aorta and right ductus arteriosus (HP:0011596)

Sister Nodes:

Cervical aortic arch (HP:0011588)

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

Double aortic arch (HP:0011590)

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:0031055	HP:0031055	Abnormal branching pattern of left aortic arch	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0031055	HP:0031055	Abnormal branching pattern of left aortic arch	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	4
HP:0031055	HP:0011592	Left aortic arch with isolated subclavian artery	1	CL E G H
HP:0031055	HP:0011596	Left aortic arch with right descending aorta and right ductus arteriosus	1	CL E G H
HP:0031055	HP:0011593	Left aortic arch with retroesophageal diverticulum of Kommerell	1	CL E G H
HP:0031055	HP:0011595	Left aortic arch with retroesophageal right subclavian artery	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0031055	HP:0011591	Left aortic arch with cervical origin of the right subclavian artery	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	4

Genes (2) :IPO8 PLD1

Diseases (2) :OMIM:619472 OMIM:212093

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