Human Phenotype Ontology 
Grandparent Node:
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Abnormal aortic arch morphology (HP:0012303)help
Parent Node:
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Abnormal branching pattern of the aortic arch (HP:0011587)help
..Starting node
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Vascular ring (HP:0010775)help
Term ID: 10775
Name: Vascular ring
Synonym: Vascular ring of aorta
Definition: A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
Comments:
Reference: HP:0010775
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal branching pattern of left aortic arch (HP:0031055) help
..expandCervical aortic arch (HP:0011588) help
..expandCommon origin of the right brachiocephalic artery and left common carotid artery (HP:0011589) help
..expandDouble aortic arch (HP:0011590) help
..expandRight aortic arch (HP:0012020) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010775HP:0010775Vascular ring0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010775HP:0010775Vascular ring0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0010775HP:0010775Vascular ring0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0010775HP:0010775Vascular ring0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010775HP:0010775Vascular ring0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0010775HP:0010775Vascular ring0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12


Genes (3) :CREBBP EP300 PIK3R2

Diseases (5) :OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:353284 OMIM:603387
 

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