Human Phenotype Ontology 
Grandparent Node:
expandAbnormal vascular morphology (HP:0025015)help
Parent Node:
expandAbnormal systemic arterial morphology (HP:0011004)help
..Starting node
..expandAbnormal vertebral artery morphology (HP:0030321)help
Term ID: 30321
Name: Abnormal vertebral artery morphology
Synonym: Abnormality of the vertebral artery
Definition: An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.
Comments:
Reference: HP:0030321
Genes and Diseases:
 
       Child Nodes:
........expandVertebrobasilar dolichoectasia (HP:0020038) help
........expandVertebral artery hypoplasia (HP:0030322) help
................... HP:0030323 Unilateral vertebral artery hypoplasia
................... HP:0030324 Bilateral vertebral artery hypoplasia

 Sister Nodes: 
..expandAbnormal aortic morphology (HP:0001679) help
..expandAbnormal carotid artery morphology (HP:0005344) help
..expandAbnormal celiac artery morphology (HP:0012326) help
..expandAbnormal cerebral artery morphology (HP:0009145) help
..expandAbnormal coronary artery morphology (HP:0006704) help
..expandAbnormal facial artery morphology (HP:3000024) help
..expandAbnormal greater palatine artery morphology (HP:3000049) help
..expandAbnormal lacrimal artery morphology (HP:3000065) help
..expandAbnormal lingual artery morphology (HP:3000074) help
..expandAbnormal radial artery morphology (HP:0031640) help
..expandAbnormal renal artery morphology (HP:0008776) help
..expandAbnormal retinal artery morphology (HP:0000630) help
..expandAbnormal subclavian artery morphology (HP:0031251) help
..expandArterial calcification (HP:0003207) help
..expandArterial dissection (HP:0005294) help
..expandArterial fibromuscular dysplasia (HP:0005313) help
..expandArterial intimal fibrosis (HP:0011353) help
..expandArterial stenosis (HP:0100545) help
..expandArterial tortuosity (HP:0005116) help
..expandArteriosclerosis (HP:0002634) help
..expandArteritis (HP:0012089) help
..expandCystic medial necrosis (HP:0012180) help
..expandDilatation of an abdominal artery (HP:0002636) 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:0030321HP:0030321Abnormal vertebral artery morphology0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0030321HP:0030321Abnormal vertebral artery morphology0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0030321HP:0030321Abnormal vertebral artery morphology0HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive10
HP:0030321HP:0030321Abnormal vertebral artery morphology0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0030321HP:0031308Vertebral artery calcification1 CL E G H
HP:0030321HP:0020038Vertebrobasilar dolichoectasia1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0030321HP:0033981Vertebral artery tortuosity1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0030321HP:0030322Vertebral artery hypoplasia1HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive10
HP:0030321HP:0034179Vertebral artery aneurysm1SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0030321HP:0030324Bilateral vertebral artery hypoplasia2 CL E G H
HP:0030321HP:0030323Unilateral vertebral artery hypoplasia2HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive.10


Genes (4) :ADAMTSL1 COL5A1 HES7 SMAD2

Diseases (4) :ORPHA:521445 OMIM:619329 OMIM:613686 OMIM:619656
 

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