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

..Starting node
..Vertebral artery tortuosity (HP:0033981)

Term ID:

33981

Name:

Vertebral artery tortuosity

Synonym:

Tortuous vertebral arteries

Definition:

Abnormal tortuous (i.e., twisted) form of the vertebral arteries.

Comments:

Reference:

HP:0033981

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033981	HP:0033981	Vertebral artery tortuosity	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF	660

Genes (1) :COL5A1

Diseases (1) :OMIM:619329

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