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:
Vestibular dysfunction (HP:0001751)

Parent Node:
Vestibular hypofunction (HP:0001756)

..Starting node
..Absent vestibular function (HP:0008555)

Term ID:

8555

Name:

Absent vestibular function

Synonym:

Definition:

Complete lack of functioning of the vestibular apparatus.

Comments:

Reference:

HP:0008555

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008555	HP:0008555	Absent vestibular function	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.	516
HP:0008555	HP:0008555	Absent vestibular function	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.	173

Genes (2) :MYO7A USH1C

Diseases (1) :OMIM:276900

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