Human Phenotype Ontology

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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
..Cervical aortic arch (HP:0011588)

Term ID:

11588

Name:

Cervical aortic arch

Synonym:

Definition:

The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.

Comments:

Reference:

HP:0011588

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011588	HP:0011588	Cervical aortic arch	0	CL E G H

Genes (0) :

Diseases (0) :

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