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:
Functional abnormality of the inner ear (HP:0011389)

Parent Node:
Vestibular dysfunction (HP:0001751)

..Starting node
..Abnormal vestibulo-ocular reflex (HP:0007670)

Term ID:

7670

Name:

Abnormal vestibulo-ocular reflex

Synonym:

Abnormal vestibuloocular reflex

Definition:

An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.

Comments:

Reference:

HP:0007670

Genes and Diseases:

Child Nodes:

........

Vestibular areflexia (HP:0008568)

........

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

Sister Nodes:

Vertigo (HP:0002321)

Vestibular hypofunction (HP:0001756)

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:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103		1
HP:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement		33
HP:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.	47
HP:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0007670	HP:0007670	Abnormal vestibulo-ocular reflex	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0007670	HP:0032100	Abnormal doll's eye reflex	1	CL E G H
HP:0007670	HP:0008568	Vestibular areflexia	1	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103	.	1
HP:0007670	HP:0008568	Vestibular areflexia	1	ESPN CL E G H	83715	13281	OMIM:609006	Deafness, autosomal recessive 36, with or without vestibular involvement	.	33
HP:0007670	HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0007670	HP:0008568	Vestibular areflexia	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0007670	HP:0008568	Vestibular areflexia	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Genes (6) :CACNA1A CLIC5 ESPN FGF14 FXN RFC1

Diseases (7) :OMIM:183086 OMIM:616042 OMIM:609006 OMIM:193003 ORPHA:95 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.

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