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
..Vestibular hypofunction (HP:0001756)

Term ID:

1756

Name:

Vestibular hypofunction

Synonym:

Definition:

Reduced functioning of the vestibular apparatus.

Comments:

Reference:

HP:0001756

Genes and Diseases:

Child Nodes:

........

Absent vestibular function (HP:0008555)

Sister Nodes:

Abnormal vestibulo-ocular reflex (HP:0007670)

Vertigo (HP:0002321)

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:0001756	HP:0001756	Vestibular hypofunction	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0001756	HP:0001756	Vestibular hypofunction	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	636
HP:0001756	HP:0001756	Vestibular hypofunction	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent	9
HP:0001756	HP:0001756	Vestibular hypofunction	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	15
HP:0001756	HP:0001756	Vestibular hypofunction	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent	60
HP:0001756	HP:0001756	Vestibular hypofunction	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	33
HP:0001756	HP:0001756	Vestibular hypofunction	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0001756	HP:0001756	Vestibular hypofunction	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	516
HP:0001756	HP:0001756	Vestibular hypofunction	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0001756	HP:0001756	Vestibular hypofunction	0	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B	HP:0040283 - Occasional	105
HP:0001756	HP:0001756	Vestibular hypofunction	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	352
HP:0001756	HP:0001756	Vestibular hypofunction	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0001756	HP:0001756	Vestibular hypofunction	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	173
HP:0001756	HP:0001756	Vestibular hypofunction	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0001756	HP:0001756	Vestibular hypofunction	0	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.	173
HP:0001756	HP:0001756	Vestibular hypofunction	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	78
HP:0001756	HP:0008555	Absent vestibular function	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.	516
HP:0001756	HP:0008555	Absent vestibular function	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.	173

Genes (13) :ARSG CDH23 CEP78 CIB2 CLRN1 ESPN HARS1 MYO7A OTOGL PCDH15 TRNS2 USH1C USH1G

Diseases (5) :ORPHA:231183 ORPHA:231169 OMIM:276900 OMIM:614944 OMIM:276904

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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