Human Phenotype Ontology

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:
Vestibular dysfunction (HP:0001751)

Parent Node:
Abnormal vestibulo-ocular reflex (HP:0007670)

..Starting node
..Vestibular areflexia (HP:0008568)

Term ID:

8568

Name:

Vestibular areflexia

Synonym:

Vestibular ataxia

Definition:

Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.

Comments:

Reference:

HP:0008568

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired visually enhanced vestibulo-ocular reflex (HP:0030183)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008568	HP:0008568	Vestibular areflexia	0	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.	1
HP:0008568	HP:0008568	Vestibular areflexia	0	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.	33
HP:0008568	HP:0008568	Vestibular areflexia	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0008568	HP:0008568	Vestibular areflexia	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Genes (3) :CLIC5 ESPN RFC1

Diseases (4) :OMIM:616042 OMIM:609006 ORPHA:504476 OMIM:614575

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